xusenlin/cmeee · Datasets at Hugging Face

text stringlengths 4 4.87k	entities list
有研究报道患者癫痫的发病率增高，尤其是BMD型。	[ { "id": 0, "entity": "癫痫", "start_offset": 7, "end_offset": 9, "label": "dis" }, { "id": 1, "entity": "BMD型", "start_offset": 19, "end_offset": 23, "label": "dis" } ]
DMD患者易出现情感/行为问题、认知功能下降及学习困难。	[ { "id": 0, "entity": "DMD", "start_offset": 0, "end_offset": 3, "label": "dis" }, { "id": 1, "entity": "易出现情感/行为问题", "start_offset": 5, "end_offset": 15, "label": "sym" }, { "id": 2, "entity": "认知功能下降", "start_offset": 16, "end_offset": 22, "label": "sym" }, { "id": 3, "entity": "学习困难", "start_offset": 23, "end_offset": 27, "label": "sym" } ]
（五）其他Larson等提出能行走的DMD患者的腰椎骨密度轻度降低，而不能行走的则明显降低。	[ { "id": 0, "entity": "DMD", "start_offset": 18, "end_offset": 21, "label": "dis" }, { "id": 1, "entity": "腰椎骨密度轻度降低", "start_offset": 24, "end_offset": 33, "label": "sym" } ]
资料显示44%的患儿可出现骨折，44%尚能行走的患儿骨折后，就不能再行走。	[ { "id": 0, "entity": "骨折", "start_offset": 13, "end_offset": 15, "label": "dis" }, { "id": 1, "entity": "骨折", "start_offset": 26, "end_offset": 28, "label": "dis" } ]
疾病的自然病程可以鉴别DMD和BMD。	[ { "id": 0, "entity": "DMD", "start_offset": 11, "end_offset": 14, "label": "dis" }, { "id": 1, "entity": "BMD", "start_offset": 15, "end_offset": 18, "label": "dis" } ]
BMD的临床与DMD相似，但发病年龄稍晚，进展缓慢，病情较轻，预后较好，存活时间较长。	[ { "id": 0, "entity": "BMD", "start_offset": 0, "end_offset": 3, "label": "dis" }, { "id": 1, "entity": "DMD", "start_offset": 7, "end_offset": 10, "label": "dis" } ]
【诊断】（一）典型的临床表现和特殊的遗传方式是诊断的基础，但实验室检查是确定本病诊断的依据。	[ { "id": 0, "entity": "实验室检查", "start_offset": 30, "end_offset": 35, "label": "pro" } ]
（二）实验室检查1.血清生化检查肌酸磷酸激酶（CK）明显升高，达15000～20000IU/L，甚至更高。	[ { "id": 0, "entity": "实验室检查", "start_offset": 3, "end_offset": 8, "label": "pro" }, { "id": 1, "entity": "血清生化检查", "start_offset": 10, "end_offset": 16, "label": "pro" }, { "id": 2, "entity": "肌酸磷酸激酶", "start_offset": 16, "end_offset": 22, "label": "bod" }, { "id": 3, "entity": "CK", "start_offset": 23, "end_offset": 25, "label": "bod" } ]
血清CK升高可出现于出生时，疾病后期略有降低。	[ { "id": 0, "entity": "血清CK升高", "start_offset": 0, "end_offset": 6, "label": "sym" } ]
2.肌电图为肌源性改变，病变肌肉呈低电位，波形持续时间缩短，而多相波增高。	[ { "id": 0, "entity": "肌电图", "start_offset": 2, "end_offset": 5, "label": "pro" }, { "id": 1, "entity": "肌源性改变", "start_offset": 6, "end_offset": 11, "label": "sym" }, { "id": 2, "entity": "病变肌肉呈低电位", "start_offset": 12, "end_offset": 20, "label": "sym" }, { "id": 3, "entity": "波形持续时间缩短", "start_offset": 21, "end_offset": 29, "label": "sym" }, { "id": 4, "entity": "多相波增高", "start_offset": 31, "end_offset": 36, "label": "sym" } ]
3.肌肉活体组织检查特征性的病理改变有散在的退行性变和坏死肌纤维。	[ { "id": 0, "entity": "肌肉活体组织检查", "start_offset": 2, "end_offset": 10, "label": "pro" }, { "id": 1, "entity": "特征性的病理改变有散在的退行性变和坏死肌纤维", "start_offset": 10, "end_offset": 32, "label": "sym" } ]
随着时间的延长，出现肌内膜结缔组织增加以及肌纤维的丧失，脂肪组织的替代。	[ { "id": 0, "entity": "肌内膜结缔组织增加", "start_offset": 10, "end_offset": 19, "label": "sym" }, { "id": 1, "entity": "肌纤维的丧失", "start_offset": 21, "end_offset": 27, "label": "sym" }, { "id": 2, "entity": "脂肪组织的替代", "start_offset": 28, "end_offset": 35, "label": "sym" } ]
4.基因诊断DMD基因定位于Xp21.1或21.3，基因编码的蛋白质为dystrophin。	[ { "id": 0, "entity": "基因诊断", "start_offset": 2, "end_offset": 6, "label": "pro" }, { "id": 1, "entity": "DMD", "start_offset": 6, "end_offset": 9, "label": "dis" }, { "id": 2, "entity": "基因", "start_offset": 9, "end_offset": 11, "label": "bod" }, { "id": 3, "entity": "Xp21.1", "start_offset": 14, "end_offset": 20, "label": "bod" }, { "id": 4, "entity": "基因编码的蛋白质", "start_offset": 26, "end_offset": 34, "label": "bod" }, { "id": 5, "entity": "dystrophin", "start_offset": 35, "end_offset": 45, "label": "dis" } ]
【治疗】（一）药物治疗常用的药物有：维生素E、肌苷、三磷酸腺苷以及中药等。	[ { "id": 0, "entity": "药物治疗", "start_offset": 7, "end_offset": 11, "label": "pro" }, { "id": 1, "entity": "维生素E", "start_offset": 18, "end_offset": 22, "label": "dru" }, { "id": 2, "entity": "肌苷", "start_offset": 23, "end_offset": 25, "label": "dru" }, { "id": 3, "entity": "三磷酸腺苷", "start_offset": 26, "end_offset": 31, "label": "dru" }, { "id": 4, "entity": "中药", "start_offset": 33, "end_offset": 35, "label": "dru" } ]
此外，用钙拮抗药维拉帕米治疗也有一定效果。	[ { "id": 0, "entity": "钙拮抗药维拉帕米", "start_offset": 4, "end_offset": 12, "label": "dru" } ]
（二）支持治疗为保持肌肉功能及预防挛缩，进行适度运动甚为重要，不宜久卧床上。	[ { "id": 0, "entity": "肌肉", "start_offset": 10, "end_offset": 12, "label": "bod" }, { "id": 1, "entity": "挛缩", "start_offset": 17, "end_offset": 19, "label": "sym" } ]
对症治疗包括肌肉、关节被动运动和按摩，注意并防止并发症。	[ { "id": 0, "entity": "肌肉", "start_offset": 6, "end_offset": 8, "label": "bod" }, { "id": 1, "entity": "关节", "start_offset": 9, "end_offset": 11, "label": "bod" } ]
（三）外科治疗DMD患者常发展为进行性脊柱侧弯，常需行脊柱后融合术。	[ { "id": 0, "entity": "外科治疗", "start_offset": 3, "end_offset": 7, "label": "pro" }, { "id": 1, "entity": "DMD", "start_offset": 7, "end_offset": 10, "label": "dis" }, { "id": 2, "entity": "进行性脊柱侧弯", "start_offset": 16, "end_offset": 23, "label": "dis" }, { "id": 3, "entity": "脊柱后融合术", "start_offset": 27, "end_offset": 33, "label": "pro" } ]
（四）基因治疗DMD基因治疗从质粒直接注射到应用不同类型的载体组装的DMD基因转染，在动物实验中取得了成功，在动物骨骼肌中dystrophin进行表达。	[ { "id": 0, "entity": "基因治疗", "start_offset": 3, "end_offset": 7, "label": "pro" }, { "id": 1, "entity": "DMD基因治疗", "start_offset": 7, "end_offset": 14, "label": "pro" }, { "id": 2, "entity": "DMD基因", "start_offset": 34, "end_offset": 39, "label": "bod" }, { "id": 3, "entity": "骨骼肌", "start_offset": 57, "end_offset": 60, "label": "bod" }, { "id": 4, "entity": "dystrophin", "start_offset": 61, "end_offset": 71, "label": "bod" } ]
加拿大学者开展了对DMD患者骨骼肌注射同种异体正常肌前体细胞的研究，并确认了供体来源的dystrophin表达。	[ { "id": 0, "entity": "DMD", "start_offset": 9, "end_offset": 12, "label": "dis" }, { "id": 1, "entity": "骨骼肌注射", "start_offset": 14, "end_offset": 19, "label": "pro" }, { "id": 2, "entity": "肌前体细胞", "start_offset": 25, "end_offset": 30, "label": "bod" }, { "id": 3, "entity": "dystrophin", "start_offset": 43, "end_offset": 53, "label": "bod" } ]
【预后】DMD预后不良，随着疾病的进展，出现关节挛缩，功能受限（尤其是踝、髋关节），脊柱侧弯较多见，一般在12岁左右发展为需依靠轮椅生活。	[ { "id": 0, "entity": "DMD", "start_offset": 4, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "关节挛缩", "start_offset": 22, "end_offset": 26, "label": "sym" }, { "id": 2, "entity": "功能受限", "start_offset": 27, "end_offset": 31, "label": "sym" }, { "id": 3, "entity": "踝", "start_offset": 35, "end_offset": 36, "label": "bod" }, { "id": 4, "entity": "髋关节", "start_offset": 37, "end_offset": 40, "label": "bod" }, { "id": 5, "entity": "脊柱侧弯较多见", "start_offset": 42, "end_offset": 49, "label": "sym" } ]
大多于20岁左右因并发呼吸衰竭或心力衰竭而死亡。	[ { "id": 0, "entity": "呼吸衰竭", "start_offset": 11, "end_offset": 15, "label": "dis" }, { "id": 1, "entity": "心力衰竭", "start_offset": 16, "end_offset": 20, "label": "dis" }, { "id": 2, "entity": "死亡", "start_offset": 21, "end_offset": 23, "label": "sym" } ]
BMD则预后良好，病程较长，通常可活至中年。	[ { "id": 0, "entity": "BMD", "start_offset": 0, "end_offset": 3, "label": "dis" } ]
二、遗传性球形红细胞增多症遗传性球形红细胞增多症（hereditaryspherocytosis，HS）是红细胞膜缺陷中最常见的一种溶血性贫血。	[ { "id": 0, "entity": "遗传性球形红细胞增多症", "start_offset": 2, "end_offset": 13, "label": "dis" }, { "id": 1, "entity": "遗传性球形红细胞增多症", "start_offset": 13, "end_offset": 24, "label": "dis" }, { "id": 2, "entity": "hereditaryspherocytosis", "start_offset": 25, "end_offset": 48, "label": "dis" }, { "id": 3, "entity": "HS", "start_offset": 49, "end_offset": 51, "label": "dis" }, { "id": 4, "entity": "红细胞", "start_offset": 53, "end_offset": 56, "label": "bod" }, { "id": 5, "entity": "溶血性贫血", "start_offset": 66, "end_offset": 71, "label": "dis" } ]
其临床特点是外周血中球形红细胞增加、渗透脆性增加伴有脾大、间隙性黄疸以及不同程度的贫血，常染色体显性遗传，极少数病人为常染色体隐性遗传，多数具有家族史。	[ { "id": 0, "entity": "外周血中球形红细胞", "start_offset": 6, "end_offset": 15, "label": "bod" }, { "id": 1, "entity": "外周血中球形红细胞增加", "start_offset": 6, "end_offset": 17, "label": "sym" }, { "id": 2, "entity": "脾", "start_offset": 26, "end_offset": 27, "label": "bod" }, { "id": 3, "entity": "渗透脆性增加伴有脾大", "start_offset": 18, "end_offset": 28, "label": "sym" }, { "id": 4, "entity": "黄疸", "start_offset": 32, "end_offset": 34, "label": "dis" }, { "id": 5, "entity": "间隙性黄疸", "start_offset": 29, "end_offset": 34, "label": "sym" }, { "id": 6, "entity": "贫血", "start_offset": 41, "end_offset": 43, "label": "dis" }, { "id": 7, "entity": "不同程度的贫血", "start_offset": 36, "end_offset": 43, "label": "sym" }, { "id": 8, "entity": "常染色体", "start_offset": 44, "end_offset": 48, "label": "bod" }, { "id": 9, "entity": "染色体", "start_offset": 60, "end_offset": 63, "label": "bod" } ]
约25%的病例无家族史，其中大多数为新突变引起，极少数为未被发现的隐性遗传，其家族中未能发现球形红细胞和红细胞渗透脆性增高现象。	[ { "id": 0, "entity": "隐性遗传", "start_offset": 33, "end_offset": 37, "label": "dis" }, { "id": 1, "entity": "球形红细胞", "start_offset": 46, "end_offset": 51, "label": "bod" }, { "id": 2, "entity": "红细胞渗透", "start_offset": 52, "end_offset": 57, "label": "ite" }, { "id": 3, "entity": "球形红细胞和红细胞渗透脆性增高", "start_offset": 46, "end_offset": 61, "label": "sym" } ]
【缺陷类型】HS的主要分子缺陷是维持红细胞形态的细胞骨架蛋白-收缩蛋白（spectrin，SP）和锚蛋白（ankyrin）异常。	[ { "id": 0, "entity": "HS", "start_offset": 6, "end_offset": 8, "label": "dis" }, { "id": 1, "entity": "红细胞", "start_offset": 18, "end_offset": 21, "label": "bod" }, { "id": 2, "entity": "细胞骨架蛋白", "start_offset": 24, "end_offset": 30, "label": "bod" }, { "id": 3, "entity": "spectrin", "start_offset": 36, "end_offset": 44, "label": "bod" }, { "id": 4, "entity": "SP", "start_offset": 45, "end_offset": 47, "label": "bod" }, { "id": 5, "entity": "锚蛋白", "start_offset": 49, "end_offset": 52, "label": "bod" }, { "id": 6, "entity": "ankyrin", "start_offset": 53, "end_offset": 60, "label": "bod" }, { "id": 7, "entity": "异常", "start_offset": 61, "end_offset": 63, "label": "sym" } ]
收缩蛋白缺陷主要与隐性遗传有关，而β收缩蛋白和蛋白3（是与细胞骨架蛋白相互作用的一种蛋白）缺陷则为显性遗传为主。	[ { "id": 0, "entity": "收缩蛋白缺陷", "start_offset": 0, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "β收缩蛋白", "start_offset": 17, "end_offset": 22, "label": "bod" }, { "id": 2, "entity": "蛋白3", "start_offset": 23, "end_offset": 26, "label": "bod" }, { "id": 3, "entity": "细胞骨架蛋白", "start_offset": 29, "end_offset": 35, "label": "bod" }, { "id": 4, "entity": "蛋白", "start_offset": 42, "end_offset": 44, "label": "bod" }, { "id": 5, "entity": "缺陷", "start_offset": 45, "end_offset": 47, "label": "sym" } ]
遗传带有异质性，现已发现以下几种类型：①单独SP缺乏（约占45%），其中75%为β-SP轻度缺陷，其含量约为正常人的63%～81%，属常染色体显性遗传。	[ { "id": 0, "entity": "单独SP缺乏", "start_offset": 20, "end_offset": 26, "label": "dis" }, { "id": 1, "entity": "β-SP轻度缺陷", "start_offset": 40, "end_offset": 48, "label": "dis" } ]
约25%为α-SP明显缺乏，其含量仅为正常人的30%～74%，属常染色体隐性遗传；②锚蛋白缺乏（约占16%）：为常染色体显性遗传。	[ { "id": 0, "entity": "染色体", "start_offset": 33, "end_offset": 36, "label": "bod" }, { "id": 1, "entity": "锚蛋白缺乏", "start_offset": 42, "end_offset": 47, "label": "dis" }, { "id": 2, "entity": "染色体", "start_offset": 57, "end_offset": 60, "label": "bod" } ]
由于锚蛋白缺少，不能连接SP，剩余的SP迅速降解，引起继发性SP减少，造成锚蛋白与SP联合减少；③蛋白3缺乏（约占22%）：为常染色体显性遗传；④蛋白4.2缺乏：为常染色体隐性遗传；⑤膜收缩蛋白与蛋白4.1的结合缺陷：为常染色体显性遗传。	[ { "id": 0, "entity": "锚蛋白", "start_offset": 2, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "SP", "start_offset": 12, "end_offset": 14, "label": "bod" }, { "id": 2, "entity": "SP", "start_offset": 18, "end_offset": 20, "label": "bod" }, { "id": 3, "entity": "SP减少", "start_offset": 30, "end_offset": 34, "label": "sym" }, { "id": 4, "entity": "锚蛋白", "start_offset": 37, "end_offset": 40, "label": "bod" }, { "id": 5, "entity": "SP", "start_offset": 41, "end_offset": 43, "label": "bod" }, { "id": 6, "entity": "蛋白3缺乏", "start_offset": 49, "end_offset": 54, "label": "dis" }, { "id": 7, "entity": "常染色体", "start_offset": 63, "end_offset": 67, "label": "bod" }, { "id": 8, "entity": "蛋白4.2缺乏", "start_offset": 73, "end_offset": 80, "label": "dis" }, { "id": 9, "entity": "常染色体", "start_offset": 82, "end_offset": 86, "label": "bod" }, { "id": 10, "entity": "膜收缩蛋白与蛋白4.1的结合缺陷", "start_offset": 92, "end_offset": 108, "label": "dis" }, { "id": 11, "entity": "常染色体", "start_offset": 110, "end_offset": 114, "label": "bod" } ]
【发病机制】上述缺陷可以导致下列病理生理改变：①脂质双层骨架在垂直方向的连接力减弱，使之“脱耦联”（uncoupling），随后红细胞膜以出芽形式形成微囊泡而丢失，而体积减少相对不明显，从而使红细胞表面积缩小，表面积与体积之比下降，变成球形细胞；②膜对阳离子的通透性和转运增加，三磷酸腺苷（ATP）利用增加，糖代谢增强；出现钠离子和水进入胞内，钾离子则透出胞外；钙ATP酶抑制，致使细胞内钙离子浓度增加并沉积在细胞膜上，使红细胞膜的柔韧性及变形能力下降。	[ { "id": 0, "entity": "脂质", "start_offset": 24, "end_offset": 26, "label": "bod" }, { "id": 1, "entity": "脱耦联", "start_offset": 45, "end_offset": 48, "label": "sym" }, { "id": 2, "entity": "uncoupling", "start_offset": 50, "end_offset": 60, "label": "sym" }, { "id": 3, "entity": "红细胞膜", "start_offset": 64, "end_offset": 68, "label": "bod" }, { "id": 4, "entity": "微囊泡", "start_offset": 75, "end_offset": 78, "label": "bod" }, { "id": 5, "entity": "体积减少相对不明显", "start_offset": 83, "end_offset": 92, "label": "sym" }, { "id": 6, "entity": "红细胞", "start_offset": 96, "end_offset": 99, "label": "bod" }, { "id": 7, "entity": "球形细胞", "start_offset": 118, "end_offset": 122, "label": "bod" }, { "id": 8, "entity": "红细胞表面积缩小，表面积与体积之比下降，变成球形细胞", "start_offset": 96, "end_offset": 122, "label": "sym" }, { "id": 9, "entity": "膜对阳离子的通透性和转运增加", "start_offset": 124, "end_offset": 138, "label": "sym" }, { "id": 10, "entity": "糖代谢增强", "start_offset": 154, "end_offset": 159, "label": "sym" }, { "id": 11, "entity": "出现钠离子和水进入胞内", "start_offset": 160, "end_offset": 171, "label": "sym" }, { "id": 12, "entity": "钾离子则透出胞外", "start_offset": 172, "end_offset": 180, "label": "sym" }, { "id": 13, "entity": "钙ATP酶", "start_offset": 181, "end_offset": 186, "label": "bod" }, { "id": 14, "entity": "细胞", "start_offset": 191, "end_offset": 193, "label": "bod" }, { "id": 15, "entity": "钙离子浓度增加", "start_offset": 194, "end_offset": 201, "label": "sym" }, { "id": 16, "entity": "红细胞膜", "start_offset": 211, "end_offset": 215, "label": "bod" }, { "id": 17, "entity": "红细胞膜的柔韧性及变形能力下降", "start_offset": 211, "end_offset": 226, "label": "sym" } ]
当这些红细胞通过仅2～3μm的脾脏微血管和脾血窦时，很容易被破坏而发生血管外溶血。	[ { "id": 0, "entity": "红细胞", "start_offset": 3, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "脾脏微血管", "start_offset": 15, "end_offset": 20, "label": "bod" }, { "id": 2, "entity": "脾血窦", "start_offset": 21, "end_offset": 24, "label": "bod" }, { "id": 3, "entity": "血管外溶血", "start_offset": 35, "end_offset": 40, "label": "dis" } ]
因此，脾切除能明显延长红细胞的寿命而治愈或减轻贫血。	[ { "id": 0, "entity": "脾切除", "start_offset": 3, "end_offset": 6, "label": "pro" }, { "id": 1, "entity": "红细胞", "start_offset": 11, "end_offset": 14, "label": "bod" }, { "id": 2, "entity": "贫血", "start_offset": 23, "end_offset": 25, "label": "dis" } ]
而膜收缩蛋白的缺乏程度与红细胞球形率、溶血程度以及脾切除后的疗效密切相关。	[ { "id": 0, "entity": "膜收缩蛋白", "start_offset": 1, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "红细胞", "start_offset": 12, "end_offset": 15, "label": "bod" }, { "id": 2, "entity": "球形率", "start_offset": 15, "end_offset": 18, "label": "ite" }, { "id": 3, "entity": "脾切除", "start_offset": 25, "end_offset": 28, "label": "pro" } ]
发生于新生儿时，可出现新生儿溶血症，表现为典型的球形红细胞、溶血增加和网织红细胞增高，早期即可出现高胆红素血症，甚至发生核黄疸。	[ { "id": 0, "entity": "新生儿溶血症", "start_offset": 11, "end_offset": 17, "label": "dis" }, { "id": 1, "entity": "红细胞", "start_offset": 26, "end_offset": 29, "label": "bod" }, { "id": 2, "entity": "球形红细胞", "start_offset": 24, "end_offset": 29, "label": "sym" }, { "id": 3, "entity": "网织红细胞", "start_offset": 35, "end_offset": 40, "label": "bod" }, { "id": 4, "entity": "溶血增加和网织红细胞增高", "start_offset": 30, "end_offset": 42, "label": "sym" }, { "id": 5, "entity": "高胆红素血症", "start_offset": 49, "end_offset": 55, "label": "dis" }, { "id": 6, "entity": "核黄疸", "start_offset": 60, "end_offset": 63, "label": "dis" } ]
由于骨髓代偿性增生，颅骨髓腔加宽，额骨和颞骨突起，珠蛋白生成障碍性贫血明显。	[ { "id": 0, "entity": "颅骨髓腔加宽", "start_offset": 10, "end_offset": 16, "label": "sym" }, { "id": 1, "entity": "颞骨", "start_offset": 20, "end_offset": 22, "label": "bod" }, { "id": 2, "entity": "额骨和颞骨突起", "start_offset": 17, "end_offset": 24, "label": "sym" }, { "id": 3, "entity": "珠蛋白生成障碍性贫血", "start_offset": 25, "end_offset": 35, "label": "dis" } ]
有些轻症病例平时可无症状，但在急性感染、B19</sub>微小病毒感染以及其他病毒感染后可诱发急性溶血、再障危象或骨髓增生低下危象。	[ { "id": 0, "entity": "急性感染", "start_offset": 15, "end_offset": 19, "label": "sym" }, { "id": 1, "entity": "病毒感染", "start_offset": 39, "end_offset": 43, "label": "dis" }, { "id": 2, "entity": "急性溶血", "start_offset": 47, "end_offset": 51, "label": "dis" }, { "id": 3, "entity": "再障危象", "start_offset": 52, "end_offset": 56, "label": "dis" }, { "id": 4, "entity": "骨髓增生低下危象", "start_offset": 57, "end_offset": 65, "label": "dis" } ]
此时贫血加重，血红蛋白可降至20～30g/L，血细胞比容可降至10%以下，此危象可持续2周左右，多数自然缓解。	[ { "id": 0, "entity": "贫血", "start_offset": 2, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "血红蛋白", "start_offset": 7, "end_offset": 11, "label": "bod" }, { "id": 2, "entity": "血细胞比容", "start_offset": 23, "end_offset": 28, "label": "ite" } ]
有些病儿在生后6～8月内虽有轻重不等的贫血，间歇或持续性黄疸，但随着年龄的增长骨髓造血代偿功能不断增强，症状逐渐减轻。	[ { "id": 0, "entity": "贫血", "start_offset": 19, "end_offset": 21, "label": "dis" }, { "id": 1, "entity": "间歇或持续性黄疸", "start_offset": 22, "end_offset": 30, "label": "dis" }, { "id": 2, "entity": "骨髓", "start_offset": 39, "end_offset": 41, "label": "bod" } ]
脾脏于婴儿期以后逐渐增大，个别轻症病例也可不大。	[ { "id": 0, "entity": "脾脏", "start_offset": 0, "end_offset": 2, "label": "bod" } ]
肝脏不大或轻度大。	[ { "id": 0, "entity": "肝脏", "start_offset": 0, "end_offset": 2, "label": "bod" } ]
【实验室检查】1.外周血改变贫血多为轻度或中度，血红蛋白多在60～100g/L。	[ { "id": 0, "entity": "血红蛋白", "start_offset": 24, "end_offset": 28, "label": "bod" } ]
网织红细胞约在6%～20%（平均10%）左右，溶血危象发作时可增至50%～70%，但在再生障碍危象时网织红细胞减低。	[ { "id": 0, "entity": "网织红细胞", "start_offset": 0, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "溶血危象", "start_offset": 23, "end_offset": 27, "label": "sym" }, { "id": 2, "entity": "再生障碍危象", "start_offset": 43, "end_offset": 49, "label": "sym" }, { "id": 3, "entity": "网织红细胞", "start_offset": 50, "end_offset": 55, "label": "bod" } ]
胞体染色深，无中央淡染区，一般占红细胞的25%～42%；约有20%～25%的病例红细胞形态变化不明显。	[ { "id": 0, "entity": "胞体染色深", "start_offset": 0, "end_offset": 5, "label": "sym" }, { "id": 1, "entity": "无中央淡染区", "start_offset": 6, "end_offset": 12, "label": "sym" }, { "id": 2, "entity": "红细胞", "start_offset": 40, "end_offset": 43, "label": "bod" }, { "id": 3, "entity": "形态变化不明显", "start_offset": 43, "end_offset": 50, "label": "sym" } ]
蛋白3缺乏者可见针刺状球形细胞，收缩蛋白和锚蛋白联合缺乏者可呈不规则形。	[ { "id": 0, "entity": "蛋白3缺乏者", "start_offset": 0, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "针刺状球形细胞", "start_offset": 8, "end_offset": 15, "label": "bod" } ]
白细胞及血小板正常。	[ { "id": 0, "entity": "白细胞", "start_offset": 0, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "血小板", "start_offset": 4, "end_offset": 7, "label": "bod" } ]
2.骨髓象红细胞系增生极度活跃，以中、晚幼红细胞居多。	[ { "id": 0, "entity": "骨髓", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "红细胞", "start_offset": 5, "end_offset": 8, "label": "bod" }, { "id": 2, "entity": "晚幼红细胞", "start_offset": 19, "end_offset": 24, "label": "bod" } ]
粒∶红细胞比例可倒置，但在再障危象或增生低下危象时，红细胞系增生不良。	[ { "id": 0, "entity": "红细胞", "start_offset": 2, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "再障危象", "start_offset": 13, "end_offset": 17, "label": "sym" }, { "id": 2, "entity": "增生低下危象", "start_offset": 18, "end_offset": 24, "label": "sym" } ]
但如合并叶酸缺乏，则可见巨幼样变。	[ { "id": 0, "entity": "叶酸", "start_offset": 4, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "巨幼样变", "start_offset": 12, "end_offset": 16, "label": "sym" } ]
3.红细胞渗透脆性试验当红细胞放入低渗氯化钠盐水溶液中时，水即可进入细胞内，使胞体膨胀。	[ { "id": 0, "entity": "红细胞渗透脆性试验", "start_offset": 2, "end_offset": 11, "label": "pro" }, { "id": 1, "entity": "红细胞", "start_offset": 12, "end_offset": 15, "label": "bod" }, { "id": 2, "entity": "低渗氯化钠盐水溶液", "start_offset": 17, "end_offset": 26, "label": "dru" }, { "id": 3, "entity": "细胞", "start_offset": 34, "end_offset": 36, "label": "bod" }, { "id": 4, "entity": "胞体膨胀", "start_offset": 39, "end_offset": 43, "label": "sym" } ]
正常红细胞呈盘状，可容许一定量的水分进入细胞内而不致破坏，而球形红细胞表面积缩小，少量水分进入细胞内即可导致红细胞破裂。	[ { "id": 0, "entity": "红细胞", "start_offset": 2, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "细胞", "start_offset": 20, "end_offset": 22, "label": "bod" }, { "id": 2, "entity": "球形红细胞", "start_offset": 30, "end_offset": 35, "label": "bod" }, { "id": 3, "entity": "球形红细胞表面积缩小", "start_offset": 30, "end_offset": 40, "label": "sym" }, { "id": 4, "entity": "红细胞", "start_offset": 54, "end_offset": 57, "label": "bod" }, { "id": 5, "entity": "红细胞破裂", "start_offset": 54, "end_offset": 59, "label": "sym" } ]
约75%的病例红细胞渗透脆性增加。	[ { "id": 0, "entity": "红细胞", "start_offset": 7, "end_offset": 10, "label": "bod" }, { "id": 1, "entity": "红细胞渗透脆性增加", "start_offset": 7, "end_offset": 16, "label": "sym" } ]
一般0.5%～0.70%开始溶血，0.4%时则完全溶血，比正常对照明显增高。	[ { "id": 0, "entity": "溶血", "start_offset": 14, "end_offset": 16, "label": "dis" }, { "id": 1, "entity": "溶血", "start_offset": 25, "end_offset": 27, "label": "dis" } ]
有10%～20%的病人红细胞渗透脆性可正常，但若将红细胞置37℃温箱中孵育24小时后，红细胞渗透脆性明显增加，0.70%～0.80%以上即可出现溶血，阳性率高达100%。	[ { "id": 0, "entity": "红细胞", "start_offset": 11, "end_offset": 14, "label": "bod" }, { "id": 1, "entity": "红细胞渗透脆性可正常", "start_offset": 11, "end_offset": 21, "label": "sym" }, { "id": 2, "entity": "红细胞", "start_offset": 25, "end_offset": 28, "label": "bod" }, { "id": 3, "entity": "红细胞", "start_offset": 43, "end_offset": 46, "label": "bod" }, { "id": 4, "entity": "红细胞渗透脆性明显增加", "start_offset": 43, "end_offset": 54, "label": "sym" }, { "id": 5, "entity": "溶血", "start_offset": 72, "end_offset": 74, "label": "dis" } ]
4.自身溶血试验对诊断有一定帮助。	[ { "id": 0, "entity": "自身溶血试验", "start_offset": 2, "end_offset": 8, "label": "pro" } ]
在无菌条件下，将脱纤维蛋白的血标本置37℃温箱中孵育48小时，离心后可见溶血增加。	[ { "id": 0, "entity": "脱纤维蛋白", "start_offset": 8, "end_offset": 13, "label": "bod" }, { "id": 1, "entity": "血标本", "start_offset": 14, "end_offset": 17, "label": "pro" }, { "id": 2, "entity": "温箱", "start_offset": 21, "end_offset": 23, "label": "equ" }, { "id": 3, "entity": "孵育", "start_offset": 24, "end_offset": 26, "label": "pro" }, { "id": 4, "entity": "离心", "start_offset": 31, "end_offset": 33, "label": "pro" }, { "id": 5, "entity": "溶血", "start_offset": 36, "end_offset": 38, "label": "ite" }, { "id": 6, "entity": "溶血增加", "start_offset": 36, "end_offset": 40, "label": "sym" } ]
正常人溶血少于5%，HS者可达15%～45%。	[ { "id": 0, "entity": "溶血", "start_offset": 3, "end_offset": 5, "label": "ite" }, { "id": 1, "entity": "HS", "start_offset": 10, "end_offset": 12, "label": "dis" } ]
若于孵育前加入少量葡萄糖或ATP，可使溶血减轻，称为纠正试验阳性。	[ { "id": 0, "entity": "葡萄糖", "start_offset": 9, "end_offset": 12, "label": "dru" }, { "id": 1, "entity": "ATP", "start_offset": 13, "end_offset": 16, "label": "dru" }, { "id": 2, "entity": "溶血减轻", "start_offset": 19, "end_offset": 23, "label": "sym" }, { "id": 3, "entity": "纠正试验", "start_offset": 26, "end_offset": 30, "label": "pro" } ]
5.酸化甘油试验（AGLT）不同红细胞在酸化甘油中的破裂速度不同，在pH为6.85，离子强度为0.3M的甘油溶液中，红细胞可发生缓慢溶血，光密度随溶血增加而下降。	[ { "id": 0, "entity": "酸化甘油试验", "start_offset": 2, "end_offset": 8, "label": "pro" }, { "id": 1, "entity": "AGLT", "start_offset": 9, "end_offset": 13, "label": "pro" }, { "id": 2, "entity": "红细胞", "start_offset": 16, "end_offset": 19, "label": "bod" }, { "id": 3, "entity": "酸化甘油", "start_offset": 20, "end_offset": 24, "label": "dru" }, { "id": 4, "entity": "甘油", "start_offset": 52, "end_offset": 54, "label": "dru" }, { "id": 5, "entity": "红细胞", "start_offset": 58, "end_offset": 61, "label": "bod" }, { "id": 6, "entity": "缓慢溶血", "start_offset": 64, "end_offset": 68, "label": "sym" }, { "id": 7, "entity": "溶血", "start_offset": 73, "end_offset": 75, "label": "dis" } ]
本法较敏感，阳性检测率可达100%。	[ { "id": 0, "entity": "阳性检测率", "start_offset": 6, "end_offset": 11, "label": "ite" } ]
6.红细胞膜蛋白电泳分析采用十二磺酸钠聚丙烯酰胺凝胶电泳（SDS-PAGE），可对膜蛋白主要成分进行定性或半定量分析，有助于了解膜蛋白的缺陷。	[ { "id": 0, "entity": "红细胞膜蛋白", "start_offset": 2, "end_offset": 8, "label": "bod" }, { "id": 1, "entity": "电泳分析", "start_offset": 8, "end_offset": 12, "label": "pro" }, { "id": 2, "entity": "十二磺酸钠聚丙烯酰胺凝胶电泳", "start_offset": 14, "end_offset": 28, "label": "pro" }, { "id": 3, "entity": "SDS-PAGE", "start_offset": 29, "end_offset": 37, "label": "pro" }, { "id": 4, "entity": "膜蛋白", "start_offset": 41, "end_offset": 44, "label": "bod" }, { "id": 5, "entity": "定性", "start_offset": 50, "end_offset": 52, "label": "pro" }, { "id": 6, "entity": "半定量分析", "start_offset": 53, "end_offset": 58, "label": "pro" }, { "id": 7, "entity": "膜蛋白", "start_offset": 64, "end_offset": 67, "label": "bod" } ]
7.放射免疫法或ELISA法直接测定膜蛋白含量，此法比电泳法更敏感。	[ { "id": 0, "entity": "放射免疫法", "start_offset": 2, "end_offset": 7, "label": "pro" }, { "id": 1, "entity": "ELISA法", "start_offset": 8, "end_offset": 14, "label": "pro" }, { "id": 2, "entity": "膜蛋白含量", "start_offset": 18, "end_offset": 23, "label": "ite" }, { "id": 3, "entity": "电泳法", "start_offset": 27, "end_offset": 30, "label": "pro" } ]
9.血清间接胆红素增加，珠蛋白含量下降，尿中尿胆原增加，溶血性贫血，出现不同程度的黄疸以及脾大，血涂片见球形红细胞超过10%，红细胞渗透脆性和孵育后渗透脆性增加，具有阳性家族史，脾切除疗效佳，并排除其他原因引起的球形红细胞增多症者，可确诊本病。	[ { "id": 0, "entity": "血清", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "胆红素", "start_offset": 6, "end_offset": 9, "label": "bod" }, { "id": 2, "entity": "血清间接胆红素增加", "start_offset": 2, "end_offset": 11, "label": "sym" }, { "id": 3, "entity": "珠蛋白", "start_offset": 12, "end_offset": 15, "label": "bod" }, { "id": 4, "entity": "珠蛋白含量下降", "start_offset": 12, "end_offset": 19, "label": "sym" }, { "id": 5, "entity": "尿", "start_offset": 20, "end_offset": 21, "label": "bod" }, { "id": 6, "entity": "尿胆原", "start_offset": 22, "end_offset": 25, "label": "bod" }, { "id": 7, "entity": "尿中尿胆原增加", "start_offset": 20, "end_offset": 27, "label": "sym" }, { "id": 8, "entity": "溶血性贫血", "start_offset": 28, "end_offset": 33, "label": "dis" }, { "id": 9, "entity": "黄疸", "start_offset": 41, "end_offset": 43, "label": "dis" }, { "id": 10, "entity": "脾", "start_offset": 45, "end_offset": 46, "label": "bod" }, { "id": 11, "entity": "脾大", "start_offset": 45, "end_offset": 47, "label": "sym" }, { "id": 12, "entity": "血涂片", "start_offset": 48, "end_offset": 51, "label": "pro" }, { "id": 13, "entity": "球形红细胞", "start_offset": 52, "end_offset": 57, "label": "bod" }, { "id": 14, "entity": "红细胞", "start_offset": 63, "end_offset": 66, "label": "bod" }, { "id": 15, "entity": "红细胞渗透脆性和孵育后渗透脆性增加", "start_offset": 63, "end_offset": 80, "label": "sym" }, { "id": 16, "entity": "脾切除", "start_offset": 89, "end_offset": 92, "label": "pro" }, { "id": 17, "entity": "球形红细胞增多症", "start_offset": 106, "end_offset": 114, "label": "dis" } ]
免疫性溶血性贫血病儿外周血中可出现大量球形红细胞，其中新生儿同族免疫性溶血性贫血，尤其是ABO血型不合存在大量球形红细胞时很像HS。	[ { "id": 0, "entity": "免疫性溶血性贫血", "start_offset": 0, "end_offset": 8, "label": "dis" }, { "id": 1, "entity": "同族免疫性溶血性贫血", "start_offset": 30, "end_offset": 40, "label": "dis" }, { "id": 2, "entity": "球形红细胞", "start_offset": 55, "end_offset": 60, "label": "bod" }, { "id": 3, "entity": "HS", "start_offset": 63, "end_offset": 65, "label": "dis" } ]
其他较少见的病因如烧伤、产气荚膜杆菌败血症、肝豆状核变性，也可见球形红细胞增多。	[ { "id": 0, "entity": "烧伤", "start_offset": 9, "end_offset": 11, "label": "dis" }, { "id": 1, "entity": "产气荚膜杆菌败血症", "start_offset": 12, "end_offset": 21, "label": "dis" }, { "id": 2, "entity": "肝豆状核变性", "start_offset": 22, "end_offset": 28, "label": "dis" }, { "id": 3, "entity": "球形红细胞", "start_offset": 32, "end_offset": 37, "label": "bod" } ]
【治疗】脾切除是本病的首选疗法，可以预防溶血危象和再生障碍危象的发生，避免出现持续的高胆红素血症和继发胆石症。	[ { "id": 0, "entity": "脾切除", "start_offset": 4, "end_offset": 7, "label": "pro" }, { "id": 1, "entity": "溶血危象", "start_offset": 20, "end_offset": 24, "label": "sym" }, { "id": 2, "entity": "再生障碍危象", "start_offset": 25, "end_offset": 31, "label": "sym" }, { "id": 3, "entity": "高胆红素血症", "start_offset": 42, "end_offset": 48, "label": "dis" }, { "id": 4, "entity": "继发胆石症", "start_offset": 49, "end_offset": 54, "label": "dis" } ]
手术后，贫血、网织红细胞增多和未结合胆红素增高现象得以纠正，红细胞寿命恢复或接近正常，临床症状消失。	[ { "id": 0, "entity": "贫血", "start_offset": 4, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "网织红细胞", "start_offset": 7, "end_offset": 12, "label": "bod" }, { "id": 2, "entity": "胆红素", "start_offset": 18, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "红细胞", "start_offset": 30, "end_offset": 33, "label": "bod" } ]
但脾切除不能根治先天性缺陷，手术后红细胞膜的缺陷和球形红细胞依然存在，自体溶血现象虽然减轻，但渗透脆性试验仍不正常。	[ { "id": 0, "entity": "脾切除", "start_offset": 1, "end_offset": 4, "label": "pro" }, { "id": 1, "entity": "先天性缺陷", "start_offset": 8, "end_offset": 13, "label": "dis" }, { "id": 2, "entity": "红细胞膜", "start_offset": 17, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "球形红细胞", "start_offset": 25, "end_offset": 30, "label": "bod" }, { "id": 4, "entity": "自体溶血", "start_offset": 35, "end_offset": 39, "label": "sym" }, { "id": 5, "entity": "渗透脆性试验", "start_offset": 47, "end_offset": 53, "label": "pro" } ]
手术年龄依溶血的轻重而异，轻症或代偿功能好的可推迟，但一般不宜晚于10岁，因10岁以后继发胆石症的可能性逐渐增高。	[ { "id": 0, "entity": "继发胆石症", "start_offset": 43, "end_offset": 48, "label": "dis" } ]
婴儿时期作脾切除者，手术后发生严重感染的危险性较大。	[ { "id": 0, "entity": "脾切除", "start_offset": 5, "end_offset": 8, "label": "pro" }, { "id": 1, "entity": "严重感染", "start_offset": 15, "end_offset": 19, "label": "sym" } ]
若在婴儿期即有反复发作的严重贫血和黄疸，为了避免影响病人的生长发育和早期出现胆石症，可以考虑在3岁以前做脾切除。	[ { "id": 0, "entity": "严重贫血", "start_offset": 12, "end_offset": 16, "label": "dis" }, { "id": 1, "entity": "黄疸", "start_offset": 17, "end_offset": 19, "label": "dis" }, { "id": 2, "entity": "胆石症", "start_offset": 38, "end_offset": 41, "label": "dis" }, { "id": 3, "entity": "脾切除", "start_offset": 52, "end_offset": 55, "label": "pro" } ]
但必须采取预防术后发生严重感染的措施。	[ { "id": 0, "entity": "严重感染", "start_offset": 11, "end_offset": 15, "label": "sym" } ]
由于50%的感染原为肺炎双球菌，故凡5岁以内切脾的，可每月注射长效青霉素，年龄为2～5岁者应间断地注射多价肺炎双球菌疫苗，以降低肺炎双球菌感染的发生率。	[ { "id": 0, "entity": "感染", "start_offset": 6, "end_offset": 8, "label": "sym" }, { "id": 1, "entity": "肺炎双球菌", "start_offset": 10, "end_offset": 15, "label": "dis" }, { "id": 2, "entity": "切脾", "start_offset": 22, "end_offset": 24, "label": "pro" }, { "id": 3, "entity": "长效青霉素", "start_offset": 31, "end_offset": 36, "label": "dru" }, { "id": 4, "entity": "肺炎双球菌", "start_offset": 53, "end_offset": 58, "label": "dis" }, { "id": 5, "entity": "肺炎双球菌感染", "start_offset": 64, "end_offset": 71, "label": "sym" } ]
脾切除术后可合并白细胞和血小板增多，甚至发生脑和其他组织栓塞，故术后应密切观察血象变化以便及时采取相应措施。	[ { "id": 0, "entity": "脾切除", "start_offset": 0, "end_offset": 3, "label": "pro" }, { "id": 1, "entity": "白细胞", "start_offset": 8, "end_offset": 11, "label": "bod" }, { "id": 2, "entity": "血小板", "start_offset": 12, "end_offset": 15, "label": "bod" } ]
手术过程中应注意寻找有无副脾，如不切除副脾，则有复发的可能。	[ { "id": 0, "entity": "副脾", "start_offset": 12, "end_offset": 14, "label": "bod" }, { "id": 1, "entity": "副脾", "start_offset": 19, "end_offset": 21, "label": "bod" } ]
近年来，采用大部分脾栓塞疗法治疗HS有一定近期疗效，对5岁以前患儿应用该疗法，可以避免免疫功能的严重下降。	[ { "id": 0, "entity": "脾栓塞疗法", "start_offset": 9, "end_offset": 14, "label": "pro" }, { "id": 1, "entity": "HS", "start_offset": 16, "end_offset": 18, "label": "dis" } ]
但这部分病例将来是否必要作脾切除尚无定论。	[ { "id": 0, "entity": "脾切除", "start_offset": 13, "end_offset": 16, "label": "pro" } ]
贫血严重的病人由于骨髓代偿性增生旺盛，叶酸消耗增加，应给叶酸5mg/日，直至脾切除。	[ { "id": 0, "entity": "贫血", "start_offset": 0, "end_offset": 2, "label": "dis" }, { "id": 1, "entity": "骨髓代偿性", "start_offset": 9, "end_offset": 14, "label": "sym" }, { "id": 2, "entity": "叶酸", "start_offset": 19, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "叶酸", "start_offset": 28, "end_offset": 30, "label": "bod" }, { "id": 4, "entity": "脾切除", "start_offset": 38, "end_offset": 41, "label": "pro" } ]
第十五节隐睾隐睾，也称睾丸未降或睾丸下降不全，是指睾丸未能按照正常发育程序从腰部腹膜后下降至阴囊。	[ { "id": 0, "entity": "节隐睾", "start_offset": 3, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "隐睾", "start_offset": 6, "end_offset": 8, "label": "dis" }, { "id": 2, "entity": "睾丸未降", "start_offset": 11, "end_offset": 15, "label": "dis" }, { "id": 3, "entity": "睾丸下降不全", "start_offset": 16, "end_offset": 22, "label": "dis" }, { "id": 4, "entity": "睾丸", "start_offset": 25, "end_offset": 27, "label": "bod" }, { "id": 5, "entity": "腰部腹膜", "start_offset": 38, "end_offset": 42, "label": "bod" }, { "id": 6, "entity": "阴囊", "start_offset": 46, "end_offset": 48, "label": "bod" } ]
隐睾的睾丸在生长发育中逐渐降低，早产儿的发病率约30%，新生儿为4%，1岁时为0.66%，成年人为0.3%，表明睾丸的下降是一个渐进的过程，在出生后睾丸仍可继续下降。	[ { "id": 0, "entity": "隐睾", "start_offset": 0, "end_offset": 2, "label": "dis" }, { "id": 1, "entity": "睾丸", "start_offset": 3, "end_offset": 5, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 74, "end_offset": 76, "label": "bod" } ]
【睾丸的下降】胚胎睾丸形第12胸椎其位置相当于第12胸椎。	[ { "id": 0, "entity": "睾丸", "start_offset": 1, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "胚胎睾丸", "start_offset": 7, "end_offset": 11, "label": "bod" }, { "id": 2, "entity": "第12胸椎", "start_offset": 12, "end_offset": 17, "label": "bod" } ]
随着胚胎时期脊柱的第12胸椎，第12胸椎向颅侧移行，睾丸丸受相对固定的睾丸引带约束不能随第12胸椎上移，其位置反而靠近腹股沟管内环处。	[ { "id": 0, "entity": "脊柱", "start_offset": 6, "end_offset": 8, "label": "bod" }, { "id": 1, "entity": "第12胸椎", "start_offset": 9, "end_offset": 14, "label": "bod" }, { "id": 2, "entity": "颅", "start_offset": 21, "end_offset": 22, "label": "bod" }, { "id": 3, "entity": "睾丸", "start_offset": 26, "end_offset": 28, "label": "bod" }, { "id": 4, "entity": "睾丸", "start_offset": 35, "end_offset": 37, "label": "bod" }, { "id": 5, "entity": "第12胸椎", "start_offset": 44, "end_offset": 49, "label": "bod" }, { "id": 6, "entity": "腹股沟管内环处", "start_offset": 59, "end_offset": 66, "label": "bod" } ]
这一过程可能也与苗勒管（副中肾管）抑制物质（Müllerianinhibitsubstance，MIS）调节有关。	[ { "id": 0, "entity": "苗勒管", "start_offset": 8, "end_offset": 11, "label": "bod" }, { "id": 1, "entity": "副中肾管", "start_offset": 12, "end_offset": 16, "label": "bod" }, { "id": 2, "entity": "Müllerianinhibitsubstance", "start_offset": 22, "end_offset": 47, "label": "bod" }, { "id": 3, "entity": "MIS", "start_offset": 48, "end_offset": 51, "label": "bod" } ]
随之，睾丸从腹股沟管内环经腹股沟管出外环而进入阴囊，是谓睾丸下降过程。	[ { "id": 0, "entity": "睾丸", "start_offset": 3, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "腹股沟管内环", "start_offset": 6, "end_offset": 12, "label": "bod" }, { "id": 2, "entity": "阴囊", "start_offset": 23, "end_offset": 25, "label": "bod" }, { "id": 3, "entity": "睾丸下降", "start_offset": 28, "end_offset": 32, "label": "dis" } ]
1.睾丸引带的牵拉睾丸引带的近端附着于睾丸和附睾，末端主要附着于阴囊底部，另有部分分别附着于耻骨结节、会阴部或股内侧部。	[ { "id": 0, "entity": "睾丸", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "睾丸引带", "start_offset": 9, "end_offset": 13, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 19, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "附睾", "start_offset": 22, "end_offset": 24, "label": "bod" }, { "id": 4, "entity": "阴囊", "start_offset": 32, "end_offset": 34, "label": "bod" }, { "id": 5, "entity": "耻骨结节", "start_offset": 46, "end_offset": 50, "label": "bod" }, { "id": 6, "entity": "会阴部", "start_offset": 51, "end_offset": 54, "label": "bod" }, { "id": 7, "entity": "股内侧部", "start_offset": 55, "end_offset": 59, "label": "bod" } ]
在睾酮的作用下，引带容积增大、肿胀带容积增大、肿胀，精索血管也延长增粗呈曲张状睾丸即沿着引带扩张过的腹股沟管如果睾丸在其下降过程中停留在腹股沟管或内、外环附近下降不全。	[ { "id": 0, "entity": "睾酮", "start_offset": 1, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "引带容积增大、肿胀", "start_offset": 8, "end_offset": 17, "label": "sym" }, { "id": 2, "entity": "精索血管", "start_offset": 26, "end_offset": 30, "label": "bod" }, { "id": 3, "entity": "精索血管也延长增粗呈曲张状", "start_offset": 26, "end_offset": 39, "label": "sym" }, { "id": 4, "entity": "睾丸", "start_offset": 39, "end_offset": 41, "label": "bod" }, { "id": 5, "entity": "腹股沟管", "start_offset": 50, "end_offset": 54, "label": "bod" }, { "id": 6, "entity": "睾丸即沿着引带扩张过的腹股沟管", "start_offset": 39, "end_offset": 54, "label": "sym" }, { "id": 7, "entity": "睾丸", "start_offset": 56, "end_offset": 58, "label": "bod" }, { "id": 8, "entity": "腹股沟管", "start_offset": 68, "end_offset": 72, "label": "bod" }, { "id": 9, "entity": "如果睾丸在其下降过程中停留在腹股沟管或内、外环附近", "start_offset": 54, "end_offset": 79, "label": "sym" }, { "id": 10, "entity": "下降不全", "start_offset": 79, "end_offset": 83, "label": "dis" } ]
如睾丸沿睾丸引带末端的其他分支下降至耻骨部、会阴部或股部，未降至阴囊底部异位睾丸。	[ { "id": 0, "entity": "睾丸", "start_offset": 1, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "睾丸", "start_offset": 4, "end_offset": 6, "label": "bod" }, { "id": 2, "entity": "耻骨部", "start_offset": 18, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "会阴部", "start_offset": 22, "end_offset": 25, "label": "bod" }, { "id": 4, "entity": "股部", "start_offset": 26, "end_offset": 28, "label": "bod" }, { "id": 5, "entity": "阴囊", "start_offset": 32, "end_offset": 34, "label": "bod" }, { "id": 6, "entity": "如睾丸沿睾丸引带末端的其他分支下降至耻骨部、会阴部或股部，未降至阴囊底部", "start_offset": 0, "end_offset": 36, "label": "sym" }, { "id": 7, "entity": "异位睾丸", "start_offset": 36, "end_offset": 40, "label": "dis" } ]
但睾丸引带的形态结构及功能效应并不明确，人类胚胎中，引带和阴囊仅有微弱的附着，可能不足以支持对睾丸的任何牵拉。	[ { "id": 0, "entity": "引带", "start_offset": 26, "end_offset": 28, "label": "bod" }, { "id": 1, "entity": "阴囊", "start_offset": 29, "end_offset": 31, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 47, "end_offset": 49, "label": "bod" } ]
2.腹内压作用腹内压增高造成睾丸离开腹部进入腹股沟管先天性腹壁肌肉发育不良的综合征，李状腹综合征（Prune-bellysyndrome），常伴有双侧腹腔内隐睾。	[ { "id": 0, "entity": "睾丸", "start_offset": 14, "end_offset": 16, "label": "bod" }, { "id": 1, "entity": "腹股沟管", "start_offset": 22, "end_offset": 26, "label": "bod" }, { "id": 2, "entity": "腹内压增高造成睾丸离开腹部进入腹股沟管", "start_offset": 7, "end_offset": 26, "label": "sym" }, { "id": 3, "entity": "先天性腹壁肌肉发育不良的综合征", "start_offset": 26, "end_offset": 41, "label": "dis" }, { "id": 4, "entity": "李状腹综合征", "start_offset": 42, "end_offset": 48, "label": "dis" }, { "id": 5, "entity": "Prune-bellysyndrome", "start_offset": 49, "end_offset": 68, "label": "dis" }, { "id": 6, "entity": "双侧腹腔内隐睾", "start_offset": 73, "end_offset": 80, "label": "dis" } ]
3.内分泌调节内分泌因素在促进睾丸降入阴囊过程中肯定起了重要作用，但其具体的机制尚不明了。	[ { "id": 0, "entity": "睾丸", "start_offset": 15, "end_offset": 17, "label": "bod" }, { "id": 1, "entity": "阴囊", "start_offset": 19, "end_offset": 21, "label": "bod" } ]
【病因】睾丸下降的机制尚未阐明，对隐睾的病因也不太清楚。	[ { "id": 0, "entity": "睾丸下降", "start_offset": 4, "end_offset": 8, "label": "dis" } ]
1.内分泌失调临床研究表明，下丘脑-垂体-睾丸轴失衡导致隐睾患者睾酮水平低于正常睾酮水平密切相关，睾酮-双氢睾酮与精索和阴囊表面的受体蛋白结合，促使睾丸下降五节隐睾隐睾，也称睾丸未降或睾丸下降不全，是指睾丸未能按照正常发育程序从腰部腹膜后下降至阴囊。	[ { "id": 0, "entity": "内分泌失调", "start_offset": 2, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "下丘脑", "start_offset": 14, "end_offset": 17, "label": "bod" }, { "id": 2, "entity": "垂体", "start_offset": 18, "end_offset": 20, "label": "bod" }, { "id": 3, "entity": "睾丸轴", "start_offset": 21, "end_offset": 24, "label": "bod" }, { "id": 4, "entity": "睾酮", "start_offset": 32, "end_offset": 34, "label": "bod" }, { "id": 5, "entity": "下丘脑-垂体-睾丸轴失衡导致隐睾患者睾酮水平低于正常", "start_offset": 14, "end_offset": 40, "label": "sym" }, { "id": 6, "entity": "睾酮水平", "start_offset": 40, "end_offset": 44, "label": "ite" }, { "id": 7, "entity": "睾酮-双氢睾酮与精索和阴囊表面的受体蛋白结合，促使睾丸下降", "start_offset": 49, "end_offset": 78, "label": "sym" }, { "id": 8, "entity": "隐睾", "start_offset": 82, "end_offset": 84, "label": "dis" }, { "id": 9, "entity": "睾丸未降", "start_offset": 87, "end_offset": 91, "label": "dis" }, { "id": 10, "entity": "睾丸下降不全", "start_offset": 92, "end_offset": 98, "label": "dis" }, { "id": 11, "entity": "睾丸未能按照正常发育程序从腰部腹膜后下降至阴囊", "start_offset": 101, "end_offset": 124, "label": "sym" } ]
隐睾的发病率在生长发育中逐渐降低，早产儿的发病率约30%，新生儿为4%，1岁时为0.66%，成年人为0.3%，表明睾丸的下降是一个渐进的过程，在出生后睾丸仍可继续下降。	[ { "id": 0, "entity": "隐睾", "start_offset": 0, "end_offset": 2, "label": "dis" }, { "id": 1, "entity": "睾丸", "start_offset": 57, "end_offset": 59, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 75, "end_offset": 77, "label": "bod" } ]
【睾丸的下降】胚胎睾丸形成时，其位置相当于第12胸椎。	[ { "id": 0, "entity": "睾丸", "start_offset": 1, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "睾丸", "start_offset": 9, "end_offset": 11, "label": "bod" } ]
随着胚胎时期脊柱的迅速发育，第12胸椎向颅侧移行，睾丸受相对固定的睾丸引带约束不能随第12胸椎上移，其位置反而靠近腹股沟管内环处。	[ { "id": 0, "entity": "睾丸", "start_offset": 33, "end_offset": 35, "label": "bod" }, { "id": 1, "entity": "腹股沟管", "start_offset": 57, "end_offset": 61, "label": "bod" } ]
随之，睾丸从腹股沟管内环经腹股沟管出外环而进入阴囊，是谓睾丸下降过程。	[ { "id": 0, "entity": "睾丸", "start_offset": 3, "end_offset": 5, "label": "bod" } ]
1.睾丸引带的牵拉睾丸引带的近端附着于睾丸和附睾，末端主要附着于阴囊底部，另有部分分别附着于耻骨结节、会阴部或股内侧部。	[ { "id": 0, "entity": "睾丸", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "睾丸", "start_offset": 9, "end_offset": 11, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 19, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "附睾", "start_offset": 22, "end_offset": 24, "label": "bod" }, { "id": 4, "entity": "阴囊", "start_offset": 32, "end_offset": 34, "label": "bod" }, { "id": 5, "entity": "耻骨结节", "start_offset": 46, "end_offset": 50, "label": "bod" } ]
在睾酮的作用下，引带容积增大、肿胀，精索血管也延长增粗呈曲张状，睾丸即沿着引带扩张过的腹股沟管进入阴囊底部。	[ { "id": 0, "entity": "睾酮", "start_offset": 1, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "精索血管", "start_offset": 18, "end_offset": 22, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 32, "end_offset": 34, "label": "bod" }, { "id": 3, "entity": "腹股沟管", "start_offset": 43, "end_offset": 47, "label": "bod" }, { "id": 4, "entity": "阴囊底部", "start_offset": 49, "end_offset": 53, "label": "bod" } ]
如果睾丸在其下降过程中停留在腹股沟管或内、外环附近，则为下降不全。	[ { "id": 0, "entity": "睾丸", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "腹股沟管", "start_offset": 14, "end_offset": 18, "label": "bod" } ]

有研究报道患者癫痫的发病率增高，尤其是BMD型。

[ { "id": 0, "entity": "癫痫", "start_offset": 7, "end_offset": 9, "label": "dis" }, { "id": 1, "entity": "BMD型", "start_offset": 19, "end_offset": 23, "label": "dis" } ]

DMD患者易出现情感/行为问题、认知功能下降及学习困难。

[ { "id": 0, "entity": "DMD", "start_offset": 0, "end_offset": 3, "label": "dis" }, { "id": 1, "entity": "易出现情感/行为问题", "start_offset": 5, "end_offset": 15, "label": "sym" }, { "id": 2, "entity": "认知功能下降", "start_offset": 16, "end_offset": 22, "label": "sym" }, { "id": 3, "entity": "学习困难", "start_offset": 23, "end_offset": 27, "label": "sym" } ]

（五）其他Larson等提出能行走的DMD患者的腰椎骨密度轻度降低，而不能行走的则明显降低。

[ { "id": 0, "entity": "DMD", "start_offset": 18, "end_offset": 21, "label": "dis" }, { "id": 1, "entity": "腰椎骨密度轻度降低", "start_offset": 24, "end_offset": 33, "label": "sym" } ]

资料显示44%的患儿可出现骨折，44%尚能行走的患儿骨折后，就不能再行走。

[ { "id": 0, "entity": "骨折", "start_offset": 13, "end_offset": 15, "label": "dis" }, { "id": 1, "entity": "骨折", "start_offset": 26, "end_offset": 28, "label": "dis" } ]

疾病的自然病程可以鉴别DMD和BMD。

[ { "id": 0, "entity": "DMD", "start_offset": 11, "end_offset": 14, "label": "dis" }, { "id": 1, "entity": "BMD", "start_offset": 15, "end_offset": 18, "label": "dis" } ]

BMD的临床与DMD相似，但发病年龄稍晚，进展缓慢，病情较轻，预后较好，存活时间较长。

[ { "id": 0, "entity": "BMD", "start_offset": 0, "end_offset": 3, "label": "dis" }, { "id": 1, "entity": "DMD", "start_offset": 7, "end_offset": 10, "label": "dis" } ]

【诊断】（一）典型的临床表现和特殊的遗传方式是诊断的基础，但实验室检查是确定本病诊断的依据。

[ { "id": 0, "entity": "实验室检查", "start_offset": 30, "end_offset": 35, "label": "pro" } ]

（二）实验室检查1.血清生化检查肌酸磷酸激酶（CK）明显升高，达15000～20000IU/L，甚至更高。

[ { "id": 0, "entity": "实验室检查", "start_offset": 3, "end_offset": 8, "label": "pro" }, { "id": 1, "entity": "血清生化检查", "start_offset": 10, "end_offset": 16, "label": "pro" }, { "id": 2, "entity": "肌酸磷酸激酶", "start_offset": 16, "end_offset": 22, "label": "bod" }, { "id": 3, "entity": "CK", "start_offset": 23, "end_offset": 25, "label": "bod" } ]

血清CK升高可出现于出生时，疾病后期略有降低。

[ { "id": 0, "entity": "血清CK升高", "start_offset": 0, "end_offset": 6, "label": "sym" } ]

2.肌电图为肌源性改变，病变肌肉呈低电位，波形持续时间缩短，而多相波增高。

[ { "id": 0, "entity": "肌电图", "start_offset": 2, "end_offset": 5, "label": "pro" }, { "id": 1, "entity": "肌源性改变", "start_offset": 6, "end_offset": 11, "label": "sym" }, { "id": 2, "entity": "病变肌肉呈低电位", "start_offset": 12, "end_offset": 20, "label": "sym" }, { "id": 3, "entity": "波形持续时间缩短", "start_offset": 21, "end_offset": 29, "label": "sym" }, { "id": 4, "entity": "多相波增高", "start_offset": 31, "end_offset": 36, "label": "sym" } ]

3.肌肉活体组织检查特征性的病理改变有散在的退行性变和坏死肌纤维。

[ { "id": 0, "entity": "肌肉活体组织检查", "start_offset": 2, "end_offset": 10, "label": "pro" }, { "id": 1, "entity": "特征性的病理改变有散在的退行性变和坏死肌纤维", "start_offset": 10, "end_offset": 32, "label": "sym" } ]

随着时间的延长，出现肌内膜结缔组织增加以及肌纤维的丧失，脂肪组织的替代。

[ { "id": 0, "entity": "肌内膜结缔组织增加", "start_offset": 10, "end_offset": 19, "label": "sym" }, { "id": 1, "entity": "肌纤维的丧失", "start_offset": 21, "end_offset": 27, "label": "sym" }, { "id": 2, "entity": "脂肪组织的替代", "start_offset": 28, "end_offset": 35, "label": "sym" } ]

4.基因诊断DMD基因定位于Xp21.1或21.3，基因编码的蛋白质为dystrophin。

[ { "id": 0, "entity": "基因诊断", "start_offset": 2, "end_offset": 6, "label": "pro" }, { "id": 1, "entity": "DMD", "start_offset": 6, "end_offset": 9, "label": "dis" }, { "id": 2, "entity": "基因", "start_offset": 9, "end_offset": 11, "label": "bod" }, { "id": 3, "entity": "Xp21.1", "start_offset": 14, "end_offset": 20, "label": "bod" }, { "id": 4, "entity": "基因编码的蛋白质", "start_offset": 26, "end_offset": 34, "label": "bod" }, { "id": 5, "entity": "dystrophin", "start_offset": 35, "end_offset": 45, "label": "dis" } ]

【治疗】（一）药物治疗常用的药物有：维生素E、肌苷、三磷酸腺苷以及中药等。

[ { "id": 0, "entity": "药物治疗", "start_offset": 7, "end_offset": 11, "label": "pro" }, { "id": 1, "entity": "维生素E", "start_offset": 18, "end_offset": 22, "label": "dru" }, { "id": 2, "entity": "肌苷", "start_offset": 23, "end_offset": 25, "label": "dru" }, { "id": 3, "entity": "三磷酸腺苷", "start_offset": 26, "end_offset": 31, "label": "dru" }, { "id": 4, "entity": "中药", "start_offset": 33, "end_offset": 35, "label": "dru" } ]

此外，用钙拮抗药维拉帕米治疗也有一定效果。

[ { "id": 0, "entity": "钙拮抗药维拉帕米", "start_offset": 4, "end_offset": 12, "label": "dru" } ]

（二）支持治疗为保持肌肉功能及预防挛缩，进行适度运动甚为重要，不宜久卧床上。

[ { "id": 0, "entity": "肌肉", "start_offset": 10, "end_offset": 12, "label": "bod" }, { "id": 1, "entity": "挛缩", "start_offset": 17, "end_offset": 19, "label": "sym" } ]

对症治疗包括肌肉、关节被动运动和按摩，注意并防止并发症。

[ { "id": 0, "entity": "肌肉", "start_offset": 6, "end_offset": 8, "label": "bod" }, { "id": 1, "entity": "关节", "start_offset": 9, "end_offset": 11, "label": "bod" } ]

（三）外科治疗DMD患者常发展为进行性脊柱侧弯，常需行脊柱后融合术。

[ { "id": 0, "entity": "外科治疗", "start_offset": 3, "end_offset": 7, "label": "pro" }, { "id": 1, "entity": "DMD", "start_offset": 7, "end_offset": 10, "label": "dis" }, { "id": 2, "entity": "进行性脊柱侧弯", "start_offset": 16, "end_offset": 23, "label": "dis" }, { "id": 3, "entity": "脊柱后融合术", "start_offset": 27, "end_offset": 33, "label": "pro" } ]

（四）基因治疗DMD基因治疗从质粒直接注射到应用不同类型的载体组装的DMD基因转染，在动物实验中取得了成功，在动物骨骼肌中dystrophin进行表达。

[ { "id": 0, "entity": "基因治疗", "start_offset": 3, "end_offset": 7, "label": "pro" }, { "id": 1, "entity": "DMD基因治疗", "start_offset": 7, "end_offset": 14, "label": "pro" }, { "id": 2, "entity": "DMD基因", "start_offset": 34, "end_offset": 39, "label": "bod" }, { "id": 3, "entity": "骨骼肌", "start_offset": 57, "end_offset": 60, "label": "bod" }, { "id": 4, "entity": "dystrophin", "start_offset": 61, "end_offset": 71, "label": "bod" } ]

加拿大学者开展了对DMD患者骨骼肌注射同种异体正常肌前体细胞的研究，并确认了供体来源的dystrophin表达。

[ { "id": 0, "entity": "DMD", "start_offset": 9, "end_offset": 12, "label": "dis" }, { "id": 1, "entity": "骨骼肌注射", "start_offset": 14, "end_offset": 19, "label": "pro" }, { "id": 2, "entity": "肌前体细胞", "start_offset": 25, "end_offset": 30, "label": "bod" }, { "id": 3, "entity": "dystrophin", "start_offset": 43, "end_offset": 53, "label": "bod" } ]

【预后】DMD预后不良，随着疾病的进展，出现关节挛缩，功能受限（尤其是踝、髋关节），脊柱侧弯较多见，一般在12岁左右发展为需依靠轮椅生活。

[ { "id": 0, "entity": "DMD", "start_offset": 4, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "关节挛缩", "start_offset": 22, "end_offset": 26, "label": "sym" }, { "id": 2, "entity": "功能受限", "start_offset": 27, "end_offset": 31, "label": "sym" }, { "id": 3, "entity": "踝", "start_offset": 35, "end_offset": 36, "label": "bod" }, { "id": 4, "entity": "髋关节", "start_offset": 37, "end_offset": 40, "label": "bod" }, { "id": 5, "entity": "脊柱侧弯较多见", "start_offset": 42, "end_offset": 49, "label": "sym" } ]

大多于20岁左右因并发呼吸衰竭或心力衰竭而死亡。

[ { "id": 0, "entity": "呼吸衰竭", "start_offset": 11, "end_offset": 15, "label": "dis" }, { "id": 1, "entity": "心力衰竭", "start_offset": 16, "end_offset": 20, "label": "dis" }, { "id": 2, "entity": "死亡", "start_offset": 21, "end_offset": 23, "label": "sym" } ]

BMD则预后良好，病程较长，通常可活至中年。

[ { "id": 0, "entity": "BMD", "start_offset": 0, "end_offset": 3, "label": "dis" } ]

二、遗传性球形红细胞增多症遗传性球形红细胞增多症（hereditaryspherocytosis，HS）是红细胞膜缺陷中最常见的一种溶血性贫血。

[ { "id": 0, "entity": "遗传性球形红细胞增多症", "start_offset": 2, "end_offset": 13, "label": "dis" }, { "id": 1, "entity": "遗传性球形红细胞增多症", "start_offset": 13, "end_offset": 24, "label": "dis" }, { "id": 2, "entity": "hereditaryspherocytosis", "start_offset": 25, "end_offset": 48, "label": "dis" }, { "id": 3, "entity": "HS", "start_offset": 49, "end_offset": 51, "label": "dis" }, { "id": 4, "entity": "红细胞", "start_offset": 53, "end_offset": 56, "label": "bod" }, { "id": 5, "entity": "溶血性贫血", "start_offset": 66, "end_offset": 71, "label": "dis" } ]

其临床特点是外周血中球形红细胞增加、渗透脆性增加伴有脾大、间隙性黄疸以及不同程度的贫血，常染色体显性遗传，极少数病人为常染色体隐性遗传，多数具有家族史。

[ { "id": 0, "entity": "外周血中球形红细胞", "start_offset": 6, "end_offset": 15, "label": "bod" }, { "id": 1, "entity": "外周血中球形红细胞增加", "start_offset": 6, "end_offset": 17, "label": "sym" }, { "id": 2, "entity": "脾", "start_offset": 26, "end_offset": 27, "label": "bod" }, { "id": 3, "entity": "渗透脆性增加伴有脾大", "start_offset": 18, "end_offset": 28, "label": "sym" }, { "id": 4, "entity": "黄疸", "start_offset": 32, "end_offset": 34, "label": "dis" }, { "id": 5, "entity": "间隙性黄疸", "start_offset": 29, "end_offset": 34, "label": "sym" }, { "id": 6, "entity": "贫血", "start_offset": 41, "end_offset": 43, "label": "dis" }, { "id": 7, "entity": "不同程度的贫血", "start_offset": 36, "end_offset": 43, "label": "sym" }, { "id": 8, "entity": "常染色体", "start_offset": 44, "end_offset": 48, "label": "bod" }, { "id": 9, "entity": "染色体", "start_offset": 60, "end_offset": 63, "label": "bod" } ]

约25%的病例无家族史，其中大多数为新突变引起，极少数为未被发现的隐性遗传，其家族中未能发现球形红细胞和红细胞渗透脆性增高现象。

[ { "id": 0, "entity": "隐性遗传", "start_offset": 33, "end_offset": 37, "label": "dis" }, { "id": 1, "entity": "球形红细胞", "start_offset": 46, "end_offset": 51, "label": "bod" }, { "id": 2, "entity": "红细胞渗透", "start_offset": 52, "end_offset": 57, "label": "ite" }, { "id": 3, "entity": "球形红细胞和红细胞渗透脆性增高", "start_offset": 46, "end_offset": 61, "label": "sym" } ]

【缺陷类型】HS的主要分子缺陷是维持红细胞形态的细胞骨架蛋白-收缩蛋白（spectrin，SP）和锚蛋白（ankyrin）异常。

[ { "id": 0, "entity": "HS", "start_offset": 6, "end_offset": 8, "label": "dis" }, { "id": 1, "entity": "红细胞", "start_offset": 18, "end_offset": 21, "label": "bod" }, { "id": 2, "entity": "细胞骨架蛋白", "start_offset": 24, "end_offset": 30, "label": "bod" }, { "id": 3, "entity": "spectrin", "start_offset": 36, "end_offset": 44, "label": "bod" }, { "id": 4, "entity": "SP", "start_offset": 45, "end_offset": 47, "label": "bod" }, { "id": 5, "entity": "锚蛋白", "start_offset": 49, "end_offset": 52, "label": "bod" }, { "id": 6, "entity": "ankyrin", "start_offset": 53, "end_offset": 60, "label": "bod" }, { "id": 7, "entity": "异常", "start_offset": 61, "end_offset": 63, "label": "sym" } ]

收缩蛋白缺陷主要与隐性遗传有关，而β收缩蛋白和蛋白3（是与细胞骨架蛋白相互作用的一种蛋白）缺陷则为显性遗传为主。

[ { "id": 0, "entity": "收缩蛋白缺陷", "start_offset": 0, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "β收缩蛋白", "start_offset": 17, "end_offset": 22, "label": "bod" }, { "id": 2, "entity": "蛋白3", "start_offset": 23, "end_offset": 26, "label": "bod" }, { "id": 3, "entity": "细胞骨架蛋白", "start_offset": 29, "end_offset": 35, "label": "bod" }, { "id": 4, "entity": "蛋白", "start_offset": 42, "end_offset": 44, "label": "bod" }, { "id": 5, "entity": "缺陷", "start_offset": 45, "end_offset": 47, "label": "sym" } ]

遗传带有异质性，现已发现以下几种类型：①单独SP缺乏（约占45%），其中75%为β-SP轻度缺陷，其含量约为正常人的63%～81%，属常染色体显性遗传。

[ { "id": 0, "entity": "单独SP缺乏", "start_offset": 20, "end_offset": 26, "label": "dis" }, { "id": 1, "entity": "β-SP轻度缺陷", "start_offset": 40, "end_offset": 48, "label": "dis" } ]

约25%为α-SP明显缺乏，其含量仅为正常人的30%～74%，属常染色体隐性遗传；②锚蛋白缺乏（约占16%）：为常染色体显性遗传。

[ { "id": 0, "entity": "染色体", "start_offset": 33, "end_offset": 36, "label": "bod" }, { "id": 1, "entity": "锚蛋白缺乏", "start_offset": 42, "end_offset": 47, "label": "dis" }, { "id": 2, "entity": "染色体", "start_offset": 57, "end_offset": 60, "label": "bod" } ]

由于锚蛋白缺少，不能连接SP，剩余的SP迅速降解，引起继发性SP减少，造成锚蛋白与SP联合减少；③蛋白3缺乏（约占22%）：为常染色体显性遗传；④蛋白4.2缺乏：为常染色体隐性遗传；⑤膜收缩蛋白与蛋白4.1的结合缺陷：为常染色体显性遗传。

[ { "id": 0, "entity": "锚蛋白", "start_offset": 2, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "SP", "start_offset": 12, "end_offset": 14, "label": "bod" }, { "id": 2, "entity": "SP", "start_offset": 18, "end_offset": 20, "label": "bod" }, { "id": 3, "entity": "SP减少", "start_offset": 30, "end_offset": 34, "label": "sym" }, { "id": 4, "entity": "锚蛋白", "start_offset": 37, "end_offset": 40, "label": "bod" }, { "id": 5, "entity": "SP", "start_offset": 41, "end_offset": 43, "label": "bod" }, { "id": 6, "entity": "蛋白3缺乏", "start_offset": 49, "end_offset": 54, "label": "dis" }, { "id": 7, "entity": "常染色体", "start_offset": 63, "end_offset": 67, "label": "bod" }, { "id": 8, "entity": "蛋白4.2缺乏", "start_offset": 73, "end_offset": 80, "label": "dis" }, { "id": 9, "entity": "常染色体", "start_offset": 82, "end_offset": 86, "label": "bod" }, { "id": 10, "entity": "膜收缩蛋白与蛋白4.1的结合缺陷", "start_offset": 92, "end_offset": 108, "label": "dis" }, { "id": 11, "entity": "常染色体", "start_offset": 110, "end_offset": 114, "label": "bod" } ]

【发病机制】上述缺陷可以导致下列病理生理改变：①脂质双层骨架在垂直方向的连接力减弱，使之“脱耦联”（uncoupling），随后红细胞膜以出芽形式形成微囊泡而丢失，而体积减少相对不明显，从而使红细胞表面积缩小，表面积与体积之比下降，变成球形细胞；②膜对阳离子的通透性和转运增加，三磷酸腺苷（ATP）利用增加，糖代谢增强；出现钠离子和水进入胞内，钾离子则透出胞外；钙ATP酶抑制，致使细胞内钙离子浓度增加并沉积在细胞膜上，使红细胞膜的柔韧性及变形能力下降。

[ { "id": 0, "entity": "脂质", "start_offset": 24, "end_offset": 26, "label": "bod" }, { "id": 1, "entity": "脱耦联", "start_offset": 45, "end_offset": 48, "label": "sym" }, { "id": 2, "entity": "uncoupling", "start_offset": 50, "end_offset": 60, "label": "sym" }, { "id": 3, "entity": "红细胞膜", "start_offset": 64, "end_offset": 68, "label": "bod" }, { "id": 4, "entity": "微囊泡", "start_offset": 75, "end_offset": 78, "label": "bod" }, { "id": 5, "entity": "体积减少相对不明显", "start_offset": 83, "end_offset": 92, "label": "sym" }, { "id": 6, "entity": "红细胞", "start_offset": 96, "end_offset": 99, "label": "bod" }, { "id": 7, "entity": "球形细胞", "start_offset": 118, "end_offset": 122, "label": "bod" }, { "id": 8, "entity": "红细胞表面积缩小，表面积与体积之比下降，变成球形细胞", "start_offset": 96, "end_offset": 122, "label": "sym" }, { "id": 9, "entity": "膜对阳离子的通透性和转运增加", "start_offset": 124, "end_offset": 138, "label": "sym" }, { "id": 10, "entity": "糖代谢增强", "start_offset": 154, "end_offset": 159, "label": "sym" }, { "id": 11, "entity": "出现钠离子和水进入胞内", "start_offset": 160, "end_offset": 171, "label": "sym" }, { "id": 12, "entity": "钾离子则透出胞外", "start_offset": 172, "end_offset": 180, "label": "sym" }, { "id": 13, "entity": "钙ATP酶", "start_offset": 181, "end_offset": 186, "label": "bod" }, { "id": 14, "entity": "细胞", "start_offset": 191, "end_offset": 193, "label": "bod" }, { "id": 15, "entity": "钙离子浓度增加", "start_offset": 194, "end_offset": 201, "label": "sym" }, { "id": 16, "entity": "红细胞膜", "start_offset": 211, "end_offset": 215, "label": "bod" }, { "id": 17, "entity": "红细胞膜的柔韧性及变形能力下降", "start_offset": 211, "end_offset": 226, "label": "sym" } ]

当这些红细胞通过仅2～3μm的脾脏微血管和脾血窦时，很容易被破坏而发生血管外溶血。

[ { "id": 0, "entity": "红细胞", "start_offset": 3, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "脾脏微血管", "start_offset": 15, "end_offset": 20, "label": "bod" }, { "id": 2, "entity": "脾血窦", "start_offset": 21, "end_offset": 24, "label": "bod" }, { "id": 3, "entity": "血管外溶血", "start_offset": 35, "end_offset": 40, "label": "dis" } ]

因此，脾切除能明显延长红细胞的寿命而治愈或减轻贫血。

[ { "id": 0, "entity": "脾切除", "start_offset": 3, "end_offset": 6, "label": "pro" }, { "id": 1, "entity": "红细胞", "start_offset": 11, "end_offset": 14, "label": "bod" }, { "id": 2, "entity": "贫血", "start_offset": 23, "end_offset": 25, "label": "dis" } ]

而膜收缩蛋白的缺乏程度与红细胞球形率、溶血程度以及脾切除后的疗效密切相关。

[ { "id": 0, "entity": "膜收缩蛋白", "start_offset": 1, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "红细胞", "start_offset": 12, "end_offset": 15, "label": "bod" }, { "id": 2, "entity": "球形率", "start_offset": 15, "end_offset": 18, "label": "ite" }, { "id": 3, "entity": "脾切除", "start_offset": 25, "end_offset": 28, "label": "pro" } ]

发生于新生儿时，可出现新生儿溶血症，表现为典型的球形红细胞、溶血增加和网织红细胞增高，早期即可出现高胆红素血症，甚至发生核黄疸。

[ { "id": 0, "entity": "新生儿溶血症", "start_offset": 11, "end_offset": 17, "label": "dis" }, { "id": 1, "entity": "红细胞", "start_offset": 26, "end_offset": 29, "label": "bod" }, { "id": 2, "entity": "球形红细胞", "start_offset": 24, "end_offset": 29, "label": "sym" }, { "id": 3, "entity": "网织红细胞", "start_offset": 35, "end_offset": 40, "label": "bod" }, { "id": 4, "entity": "溶血增加和网织红细胞增高", "start_offset": 30, "end_offset": 42, "label": "sym" }, { "id": 5, "entity": "高胆红素血症", "start_offset": 49, "end_offset": 55, "label": "dis" }, { "id": 6, "entity": "核黄疸", "start_offset": 60, "end_offset": 63, "label": "dis" } ]

由于骨髓代偿性增生，颅骨髓腔加宽，额骨和颞骨突起，珠蛋白生成障碍性贫血明显。

[ { "id": 0, "entity": "颅骨髓腔加宽", "start_offset": 10, "end_offset": 16, "label": "sym" }, { "id": 1, "entity": "颞骨", "start_offset": 20, "end_offset": 22, "label": "bod" }, { "id": 2, "entity": "额骨和颞骨突起", "start_offset": 17, "end_offset": 24, "label": "sym" }, { "id": 3, "entity": "珠蛋白生成障碍性贫血", "start_offset": 25, "end_offset": 35, "label": "dis" } ]

有些轻症病例平时可无症状，但在急性感染、B19</sub>微小病毒感染以及其他病毒感染后可诱发急性溶血、再障危象或骨髓增生低下危象。

[ { "id": 0, "entity": "急性感染", "start_offset": 15, "end_offset": 19, "label": "sym" }, { "id": 1, "entity": "病毒感染", "start_offset": 39, "end_offset": 43, "label": "dis" }, { "id": 2, "entity": "急性溶血", "start_offset": 47, "end_offset": 51, "label": "dis" }, { "id": 3, "entity": "再障危象", "start_offset": 52, "end_offset": 56, "label": "dis" }, { "id": 4, "entity": "骨髓增生低下危象", "start_offset": 57, "end_offset": 65, "label": "dis" } ]

此时贫血加重，血红蛋白可降至20～30g/L，血细胞比容可降至10%以下，此危象可持续2周左右，多数自然缓解。

[ { "id": 0, "entity": "贫血", "start_offset": 2, "end_offset": 4, "label": "dis" }, { "id": 1, "entity": "血红蛋白", "start_offset": 7, "end_offset": 11, "label": "bod" }, { "id": 2, "entity": "血细胞比容", "start_offset": 23, "end_offset": 28, "label": "ite" } ]

有些病儿在生后6～8月内虽有轻重不等的贫血，间歇或持续性黄疸，但随着年龄的增长骨髓造血代偿功能不断增强，症状逐渐减轻。

[ { "id": 0, "entity": "贫血", "start_offset": 19, "end_offset": 21, "label": "dis" }, { "id": 1, "entity": "间歇或持续性黄疸", "start_offset": 22, "end_offset": 30, "label": "dis" }, { "id": 2, "entity": "骨髓", "start_offset": 39, "end_offset": 41, "label": "bod" } ]

脾脏于婴儿期以后逐渐增大，个别轻症病例也可不大。

[ { "id": 0, "entity": "脾脏", "start_offset": 0, "end_offset": 2, "label": "bod" } ]

肝脏不大或轻度大。

[ { "id": 0, "entity": "肝脏", "start_offset": 0, "end_offset": 2, "label": "bod" } ]

【实验室检查】1.外周血改变贫血多为轻度或中度，血红蛋白多在60～100g/L。

[ { "id": 0, "entity": "血红蛋白", "start_offset": 24, "end_offset": 28, "label": "bod" } ]

网织红细胞约在6%～20%（平均10%）左右，溶血危象发作时可增至50%～70%，但在再生障碍危象时网织红细胞减低。

[ { "id": 0, "entity": "网织红细胞", "start_offset": 0, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "溶血危象", "start_offset": 23, "end_offset": 27, "label": "sym" }, { "id": 2, "entity": "再生障碍危象", "start_offset": 43, "end_offset": 49, "label": "sym" }, { "id": 3, "entity": "网织红细胞", "start_offset": 50, "end_offset": 55, "label": "bod" } ]

胞体染色深，无中央淡染区，一般占红细胞的25%～42%；约有20%～25%的病例红细胞形态变化不明显。

[ { "id": 0, "entity": "胞体染色深", "start_offset": 0, "end_offset": 5, "label": "sym" }, { "id": 1, "entity": "无中央淡染区", "start_offset": 6, "end_offset": 12, "label": "sym" }, { "id": 2, "entity": "红细胞", "start_offset": 40, "end_offset": 43, "label": "bod" }, { "id": 3, "entity": "形态变化不明显", "start_offset": 43, "end_offset": 50, "label": "sym" } ]

蛋白3缺乏者可见针刺状球形细胞，收缩蛋白和锚蛋白联合缺乏者可呈不规则形。

[ { "id": 0, "entity": "蛋白3缺乏者", "start_offset": 0, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "针刺状球形细胞", "start_offset": 8, "end_offset": 15, "label": "bod" } ]

白细胞及血小板正常。

[ { "id": 0, "entity": "白细胞", "start_offset": 0, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "血小板", "start_offset": 4, "end_offset": 7, "label": "bod" } ]

2.骨髓象红细胞系增生极度活跃，以中、晚幼红细胞居多。

[ { "id": 0, "entity": "骨髓", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "红细胞", "start_offset": 5, "end_offset": 8, "label": "bod" }, { "id": 2, "entity": "晚幼红细胞", "start_offset": 19, "end_offset": 24, "label": "bod" } ]

粒∶红细胞比例可倒置，但在再障危象或增生低下危象时，红细胞系增生不良。

[ { "id": 0, "entity": "红细胞", "start_offset": 2, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "再障危象", "start_offset": 13, "end_offset": 17, "label": "sym" }, { "id": 2, "entity": "增生低下危象", "start_offset": 18, "end_offset": 24, "label": "sym" } ]

但如合并叶酸缺乏，则可见巨幼样变。

[ { "id": 0, "entity": "叶酸", "start_offset": 4, "end_offset": 6, "label": "bod" }, { "id": 1, "entity": "巨幼样变", "start_offset": 12, "end_offset": 16, "label": "sym" } ]

3.红细胞渗透脆性试验当红细胞放入低渗氯化钠盐水溶液中时，水即可进入细胞内，使胞体膨胀。

[ { "id": 0, "entity": "红细胞渗透脆性试验", "start_offset": 2, "end_offset": 11, "label": "pro" }, { "id": 1, "entity": "红细胞", "start_offset": 12, "end_offset": 15, "label": "bod" }, { "id": 2, "entity": "低渗氯化钠盐水溶液", "start_offset": 17, "end_offset": 26, "label": "dru" }, { "id": 3, "entity": "细胞", "start_offset": 34, "end_offset": 36, "label": "bod" }, { "id": 4, "entity": "胞体膨胀", "start_offset": 39, "end_offset": 43, "label": "sym" } ]

正常红细胞呈盘状，可容许一定量的水分进入细胞内而不致破坏，而球形红细胞表面积缩小，少量水分进入细胞内即可导致红细胞破裂。

[ { "id": 0, "entity": "红细胞", "start_offset": 2, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "细胞", "start_offset": 20, "end_offset": 22, "label": "bod" }, { "id": 2, "entity": "球形红细胞", "start_offset": 30, "end_offset": 35, "label": "bod" }, { "id": 3, "entity": "球形红细胞表面积缩小", "start_offset": 30, "end_offset": 40, "label": "sym" }, { "id": 4, "entity": "红细胞", "start_offset": 54, "end_offset": 57, "label": "bod" }, { "id": 5, "entity": "红细胞破裂", "start_offset": 54, "end_offset": 59, "label": "sym" } ]

约75%的病例红细胞渗透脆性增加。

[ { "id": 0, "entity": "红细胞", "start_offset": 7, "end_offset": 10, "label": "bod" }, { "id": 1, "entity": "红细胞渗透脆性增加", "start_offset": 7, "end_offset": 16, "label": "sym" } ]

一般0.5%～0.70%开始溶血，0.4%时则完全溶血，比正常对照明显增高。

[ { "id": 0, "entity": "溶血", "start_offset": 14, "end_offset": 16, "label": "dis" }, { "id": 1, "entity": "溶血", "start_offset": 25, "end_offset": 27, "label": "dis" } ]

有10%～20%的病人红细胞渗透脆性可正常，但若将红细胞置37℃温箱中孵育24小时后，红细胞渗透脆性明显增加，0.70%～0.80%以上即可出现溶血，阳性率高达100%。

[ { "id": 0, "entity": "红细胞", "start_offset": 11, "end_offset": 14, "label": "bod" }, { "id": 1, "entity": "红细胞渗透脆性可正常", "start_offset": 11, "end_offset": 21, "label": "sym" }, { "id": 2, "entity": "红细胞", "start_offset": 25, "end_offset": 28, "label": "bod" }, { "id": 3, "entity": "红细胞", "start_offset": 43, "end_offset": 46, "label": "bod" }, { "id": 4, "entity": "红细胞渗透脆性明显增加", "start_offset": 43, "end_offset": 54, "label": "sym" }, { "id": 5, "entity": "溶血", "start_offset": 72, "end_offset": 74, "label": "dis" } ]

4.自身溶血试验对诊断有一定帮助。

[ { "id": 0, "entity": "自身溶血试验", "start_offset": 2, "end_offset": 8, "label": "pro" } ]

在无菌条件下，将脱纤维蛋白的血标本置37℃温箱中孵育48小时，离心后可见溶血增加。

[ { "id": 0, "entity": "脱纤维蛋白", "start_offset": 8, "end_offset": 13, "label": "bod" }, { "id": 1, "entity": "血标本", "start_offset": 14, "end_offset": 17, "label": "pro" }, { "id": 2, "entity": "温箱", "start_offset": 21, "end_offset": 23, "label": "equ" }, { "id": 3, "entity": "孵育", "start_offset": 24, "end_offset": 26, "label": "pro" }, { "id": 4, "entity": "离心", "start_offset": 31, "end_offset": 33, "label": "pro" }, { "id": 5, "entity": "溶血", "start_offset": 36, "end_offset": 38, "label": "ite" }, { "id": 6, "entity": "溶血增加", "start_offset": 36, "end_offset": 40, "label": "sym" } ]

正常人溶血少于5%，HS者可达15%～45%。

[ { "id": 0, "entity": "溶血", "start_offset": 3, "end_offset": 5, "label": "ite" }, { "id": 1, "entity": "HS", "start_offset": 10, "end_offset": 12, "label": "dis" } ]

若于孵育前加入少量葡萄糖或ATP，可使溶血减轻，称为纠正试验阳性。

[ { "id": 0, "entity": "葡萄糖", "start_offset": 9, "end_offset": 12, "label": "dru" }, { "id": 1, "entity": "ATP", "start_offset": 13, "end_offset": 16, "label": "dru" }, { "id": 2, "entity": "溶血减轻", "start_offset": 19, "end_offset": 23, "label": "sym" }, { "id": 3, "entity": "纠正试验", "start_offset": 26, "end_offset": 30, "label": "pro" } ]

5.酸化甘油试验（AGLT）不同红细胞在酸化甘油中的破裂速度不同，在pH为6.85，离子强度为0.3M的甘油溶液中，红细胞可发生缓慢溶血，光密度随溶血增加而下降。

[ { "id": 0, "entity": "酸化甘油试验", "start_offset": 2, "end_offset": 8, "label": "pro" }, { "id": 1, "entity": "AGLT", "start_offset": 9, "end_offset": 13, "label": "pro" }, { "id": 2, "entity": "红细胞", "start_offset": 16, "end_offset": 19, "label": "bod" }, { "id": 3, "entity": "酸化甘油", "start_offset": 20, "end_offset": 24, "label": "dru" }, { "id": 4, "entity": "甘油", "start_offset": 52, "end_offset": 54, "label": "dru" }, { "id": 5, "entity": "红细胞", "start_offset": 58, "end_offset": 61, "label": "bod" }, { "id": 6, "entity": "缓慢溶血", "start_offset": 64, "end_offset": 68, "label": "sym" }, { "id": 7, "entity": "溶血", "start_offset": 73, "end_offset": 75, "label": "dis" } ]

本法较敏感，阳性检测率可达100%。

[ { "id": 0, "entity": "阳性检测率", "start_offset": 6, "end_offset": 11, "label": "ite" } ]

6.红细胞膜蛋白电泳分析采用十二磺酸钠聚丙烯酰胺凝胶电泳（SDS-PAGE），可对膜蛋白主要成分进行定性或半定量分析，有助于了解膜蛋白的缺陷。

[ { "id": 0, "entity": "红细胞膜蛋白", "start_offset": 2, "end_offset": 8, "label": "bod" }, { "id": 1, "entity": "电泳分析", "start_offset": 8, "end_offset": 12, "label": "pro" }, { "id": 2, "entity": "十二磺酸钠聚丙烯酰胺凝胶电泳", "start_offset": 14, "end_offset": 28, "label": "pro" }, { "id": 3, "entity": "SDS-PAGE", "start_offset": 29, "end_offset": 37, "label": "pro" }, { "id": 4, "entity": "膜蛋白", "start_offset": 41, "end_offset": 44, "label": "bod" }, { "id": 5, "entity": "定性", "start_offset": 50, "end_offset": 52, "label": "pro" }, { "id": 6, "entity": "半定量分析", "start_offset": 53, "end_offset": 58, "label": "pro" }, { "id": 7, "entity": "膜蛋白", "start_offset": 64, "end_offset": 67, "label": "bod" } ]

7.放射免疫法或ELISA法直接测定膜蛋白含量，此法比电泳法更敏感。

[ { "id": 0, "entity": "放射免疫法", "start_offset": 2, "end_offset": 7, "label": "pro" }, { "id": 1, "entity": "ELISA法", "start_offset": 8, "end_offset": 14, "label": "pro" }, { "id": 2, "entity": "膜蛋白含量", "start_offset": 18, "end_offset": 23, "label": "ite" }, { "id": 3, "entity": "电泳法", "start_offset": 27, "end_offset": 30, "label": "pro" } ]

9.血清间接胆红素增加，珠蛋白含量下降，尿中尿胆原增加，溶血性贫血，出现不同程度的黄疸以及脾大，血涂片见球形红细胞超过10%，红细胞渗透脆性和孵育后渗透脆性增加，具有阳性家族史，脾切除疗效佳，并排除其他原因引起的球形红细胞增多症者，可确诊本病。

[ { "id": 0, "entity": "血清", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "胆红素", "start_offset": 6, "end_offset": 9, "label": "bod" }, { "id": 2, "entity": "血清间接胆红素增加", "start_offset": 2, "end_offset": 11, "label": "sym" }, { "id": 3, "entity": "珠蛋白", "start_offset": 12, "end_offset": 15, "label": "bod" }, { "id": 4, "entity": "珠蛋白含量下降", "start_offset": 12, "end_offset": 19, "label": "sym" }, { "id": 5, "entity": "尿", "start_offset": 20, "end_offset": 21, "label": "bod" }, { "id": 6, "entity": "尿胆原", "start_offset": 22, "end_offset": 25, "label": "bod" }, { "id": 7, "entity": "尿中尿胆原增加", "start_offset": 20, "end_offset": 27, "label": "sym" }, { "id": 8, "entity": "溶血性贫血", "start_offset": 28, "end_offset": 33, "label": "dis" }, { "id": 9, "entity": "黄疸", "start_offset": 41, "end_offset": 43, "label": "dis" }, { "id": 10, "entity": "脾", "start_offset": 45, "end_offset": 46, "label": "bod" }, { "id": 11, "entity": "脾大", "start_offset": 45, "end_offset": 47, "label": "sym" }, { "id": 12, "entity": "血涂片", "start_offset": 48, "end_offset": 51, "label": "pro" }, { "id": 13, "entity": "球形红细胞", "start_offset": 52, "end_offset": 57, "label": "bod" }, { "id": 14, "entity": "红细胞", "start_offset": 63, "end_offset": 66, "label": "bod" }, { "id": 15, "entity": "红细胞渗透脆性和孵育后渗透脆性增加", "start_offset": 63, "end_offset": 80, "label": "sym" }, { "id": 16, "entity": "脾切除", "start_offset": 89, "end_offset": 92, "label": "pro" }, { "id": 17, "entity": "球形红细胞增多症", "start_offset": 106, "end_offset": 114, "label": "dis" } ]

免疫性溶血性贫血病儿外周血中可出现大量球形红细胞，其中新生儿同族免疫性溶血性贫血，尤其是ABO血型不合存在大量球形红细胞时很像HS。

[ { "id": 0, "entity": "免疫性溶血性贫血", "start_offset": 0, "end_offset": 8, "label": "dis" }, { "id": 1, "entity": "同族免疫性溶血性贫血", "start_offset": 30, "end_offset": 40, "label": "dis" }, { "id": 2, "entity": "球形红细胞", "start_offset": 55, "end_offset": 60, "label": "bod" }, { "id": 3, "entity": "HS", "start_offset": 63, "end_offset": 65, "label": "dis" } ]

其他较少见的病因如烧伤、产气荚膜杆菌败血症、肝豆状核变性，也可见球形红细胞增多。

[ { "id": 0, "entity": "烧伤", "start_offset": 9, "end_offset": 11, "label": "dis" }, { "id": 1, "entity": "产气荚膜杆菌败血症", "start_offset": 12, "end_offset": 21, "label": "dis" }, { "id": 2, "entity": "肝豆状核变性", "start_offset": 22, "end_offset": 28, "label": "dis" }, { "id": 3, "entity": "球形红细胞", "start_offset": 32, "end_offset": 37, "label": "bod" } ]

【治疗】脾切除是本病的首选疗法，可以预防溶血危象和再生障碍危象的发生，避免出现持续的高胆红素血症和继发胆石症。

[ { "id": 0, "entity": "脾切除", "start_offset": 4, "end_offset": 7, "label": "pro" }, { "id": 1, "entity": "溶血危象", "start_offset": 20, "end_offset": 24, "label": "sym" }, { "id": 2, "entity": "再生障碍危象", "start_offset": 25, "end_offset": 31, "label": "sym" }, { "id": 3, "entity": "高胆红素血症", "start_offset": 42, "end_offset": 48, "label": "dis" }, { "id": 4, "entity": "继发胆石症", "start_offset": 49, "end_offset": 54, "label": "dis" } ]

手术后，贫血、网织红细胞增多和未结合胆红素增高现象得以纠正，红细胞寿命恢复或接近正常，临床症状消失。

[ { "id": 0, "entity": "贫血", "start_offset": 4, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "网织红细胞", "start_offset": 7, "end_offset": 12, "label": "bod" }, { "id": 2, "entity": "胆红素", "start_offset": 18, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "红细胞", "start_offset": 30, "end_offset": 33, "label": "bod" } ]

但脾切除不能根治先天性缺陷，手术后红细胞膜的缺陷和球形红细胞依然存在，自体溶血现象虽然减轻，但渗透脆性试验仍不正常。

[ { "id": 0, "entity": "脾切除", "start_offset": 1, "end_offset": 4, "label": "pro" }, { "id": 1, "entity": "先天性缺陷", "start_offset": 8, "end_offset": 13, "label": "dis" }, { "id": 2, "entity": "红细胞膜", "start_offset": 17, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "球形红细胞", "start_offset": 25, "end_offset": 30, "label": "bod" }, { "id": 4, "entity": "自体溶血", "start_offset": 35, "end_offset": 39, "label": "sym" }, { "id": 5, "entity": "渗透脆性试验", "start_offset": 47, "end_offset": 53, "label": "pro" } ]

手术年龄依溶血的轻重而异，轻症或代偿功能好的可推迟，但一般不宜晚于10岁，因10岁以后继发胆石症的可能性逐渐增高。

[ { "id": 0, "entity": "继发胆石症", "start_offset": 43, "end_offset": 48, "label": "dis" } ]

婴儿时期作脾切除者，手术后发生严重感染的危险性较大。

[ { "id": 0, "entity": "脾切除", "start_offset": 5, "end_offset": 8, "label": "pro" }, { "id": 1, "entity": "严重感染", "start_offset": 15, "end_offset": 19, "label": "sym" } ]

若在婴儿期即有反复发作的严重贫血和黄疸，为了避免影响病人的生长发育和早期出现胆石症，可以考虑在3岁以前做脾切除。

[ { "id": 0, "entity": "严重贫血", "start_offset": 12, "end_offset": 16, "label": "dis" }, { "id": 1, "entity": "黄疸", "start_offset": 17, "end_offset": 19, "label": "dis" }, { "id": 2, "entity": "胆石症", "start_offset": 38, "end_offset": 41, "label": "dis" }, { "id": 3, "entity": "脾切除", "start_offset": 52, "end_offset": 55, "label": "pro" } ]

但必须采取预防术后发生严重感染的措施。

[ { "id": 0, "entity": "严重感染", "start_offset": 11, "end_offset": 15, "label": "sym" } ]

由于50%的感染原为肺炎双球菌，故凡5岁以内切脾的，可每月注射长效青霉素，年龄为2～5岁者应间断地注射多价肺炎双球菌疫苗，以降低肺炎双球菌感染的发生率。

[ { "id": 0, "entity": "感染", "start_offset": 6, "end_offset": 8, "label": "sym" }, { "id": 1, "entity": "肺炎双球菌", "start_offset": 10, "end_offset": 15, "label": "dis" }, { "id": 2, "entity": "切脾", "start_offset": 22, "end_offset": 24, "label": "pro" }, { "id": 3, "entity": "长效青霉素", "start_offset": 31, "end_offset": 36, "label": "dru" }, { "id": 4, "entity": "肺炎双球菌", "start_offset": 53, "end_offset": 58, "label": "dis" }, { "id": 5, "entity": "肺炎双球菌感染", "start_offset": 64, "end_offset": 71, "label": "sym" } ]

脾切除术后可合并白细胞和血小板增多，甚至发生脑和其他组织栓塞，故术后应密切观察血象变化以便及时采取相应措施。

[ { "id": 0, "entity": "脾切除", "start_offset": 0, "end_offset": 3, "label": "pro" }, { "id": 1, "entity": "白细胞", "start_offset": 8, "end_offset": 11, "label": "bod" }, { "id": 2, "entity": "血小板", "start_offset": 12, "end_offset": 15, "label": "bod" } ]

手术过程中应注意寻找有无副脾，如不切除副脾，则有复发的可能。

[ { "id": 0, "entity": "副脾", "start_offset": 12, "end_offset": 14, "label": "bod" }, { "id": 1, "entity": "副脾", "start_offset": 19, "end_offset": 21, "label": "bod" } ]

近年来，采用大部分脾栓塞疗法治疗HS有一定近期疗效，对5岁以前患儿应用该疗法，可以避免免疫功能的严重下降。

[ { "id": 0, "entity": "脾栓塞疗法", "start_offset": 9, "end_offset": 14, "label": "pro" }, { "id": 1, "entity": "HS", "start_offset": 16, "end_offset": 18, "label": "dis" } ]

但这部分病例将来是否必要作脾切除尚无定论。

[ { "id": 0, "entity": "脾切除", "start_offset": 13, "end_offset": 16, "label": "pro" } ]

贫血严重的病人由于骨髓代偿性增生旺盛，叶酸消耗增加，应给叶酸5mg/日，直至脾切除。

[ { "id": 0, "entity": "贫血", "start_offset": 0, "end_offset": 2, "label": "dis" }, { "id": 1, "entity": "骨髓代偿性", "start_offset": 9, "end_offset": 14, "label": "sym" }, { "id": 2, "entity": "叶酸", "start_offset": 19, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "叶酸", "start_offset": 28, "end_offset": 30, "label": "bod" }, { "id": 4, "entity": "脾切除", "start_offset": 38, "end_offset": 41, "label": "pro" } ]

第十五节隐睾隐睾，也称睾丸未降或睾丸下降不全，是指睾丸未能按照正常发育程序从腰部腹膜后下降至阴囊。

[ { "id": 0, "entity": "节隐睾", "start_offset": 3, "end_offset": 6, "label": "dis" }, { "id": 1, "entity": "隐睾", "start_offset": 6, "end_offset": 8, "label": "dis" }, { "id": 2, "entity": "睾丸未降", "start_offset": 11, "end_offset": 15, "label": "dis" }, { "id": 3, "entity": "睾丸下降不全", "start_offset": 16, "end_offset": 22, "label": "dis" }, { "id": 4, "entity": "睾丸", "start_offset": 25, "end_offset": 27, "label": "bod" }, { "id": 5, "entity": "腰部腹膜", "start_offset": 38, "end_offset": 42, "label": "bod" }, { "id": 6, "entity": "阴囊", "start_offset": 46, "end_offset": 48, "label": "bod" } ]

隐睾的睾丸在生长发育中逐渐降低，早产儿的发病率约30%，新生儿为4%，1岁时为0.66%，成年人为0.3%，表明睾丸的下降是一个渐进的过程，在出生后睾丸仍可继续下降。

[ { "id": 0, "entity": "隐睾", "start_offset": 0, "end_offset": 2, "label": "dis" }, { "id": 1, "entity": "睾丸", "start_offset": 3, "end_offset": 5, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 74, "end_offset": 76, "label": "bod" } ]

【睾丸的下降】胚胎睾丸形第12胸椎其位置相当于第12胸椎。

[ { "id": 0, "entity": "睾丸", "start_offset": 1, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "胚胎睾丸", "start_offset": 7, "end_offset": 11, "label": "bod" }, { "id": 2, "entity": "第12胸椎", "start_offset": 12, "end_offset": 17, "label": "bod" } ]

随着胚胎时期脊柱的第12胸椎，第12胸椎向颅侧移行，睾丸丸受相对固定的睾丸引带约束不能随第12胸椎上移，其位置反而靠近腹股沟管内环处。

[ { "id": 0, "entity": "脊柱", "start_offset": 6, "end_offset": 8, "label": "bod" }, { "id": 1, "entity": "第12胸椎", "start_offset": 9, "end_offset": 14, "label": "bod" }, { "id": 2, "entity": "颅", "start_offset": 21, "end_offset": 22, "label": "bod" }, { "id": 3, "entity": "睾丸", "start_offset": 26, "end_offset": 28, "label": "bod" }, { "id": 4, "entity": "睾丸", "start_offset": 35, "end_offset": 37, "label": "bod" }, { "id": 5, "entity": "第12胸椎", "start_offset": 44, "end_offset": 49, "label": "bod" }, { "id": 6, "entity": "腹股沟管内环处", "start_offset": 59, "end_offset": 66, "label": "bod" } ]

这一过程可能也与苗勒管（副中肾管）抑制物质（Müllerianinhibitsubstance，MIS）调节有关。

[ { "id": 0, "entity": "苗勒管", "start_offset": 8, "end_offset": 11, "label": "bod" }, { "id": 1, "entity": "副中肾管", "start_offset": 12, "end_offset": 16, "label": "bod" }, { "id": 2, "entity": "Müllerianinhibitsubstance", "start_offset": 22, "end_offset": 47, "label": "bod" }, { "id": 3, "entity": "MIS", "start_offset": 48, "end_offset": 51, "label": "bod" } ]

随之，睾丸从腹股沟管内环经腹股沟管出外环而进入阴囊，是谓睾丸下降过程。

[ { "id": 0, "entity": "睾丸", "start_offset": 3, "end_offset": 5, "label": "bod" }, { "id": 1, "entity": "腹股沟管内环", "start_offset": 6, "end_offset": 12, "label": "bod" }, { "id": 2, "entity": "阴囊", "start_offset": 23, "end_offset": 25, "label": "bod" }, { "id": 3, "entity": "睾丸下降", "start_offset": 28, "end_offset": 32, "label": "dis" } ]

1.睾丸引带的牵拉睾丸引带的近端附着于睾丸和附睾，末端主要附着于阴囊底部，另有部分分别附着于耻骨结节、会阴部或股内侧部。

[ { "id": 0, "entity": "睾丸", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "睾丸引带", "start_offset": 9, "end_offset": 13, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 19, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "附睾", "start_offset": 22, "end_offset": 24, "label": "bod" }, { "id": 4, "entity": "阴囊", "start_offset": 32, "end_offset": 34, "label": "bod" }, { "id": 5, "entity": "耻骨结节", "start_offset": 46, "end_offset": 50, "label": "bod" }, { "id": 6, "entity": "会阴部", "start_offset": 51, "end_offset": 54, "label": "bod" }, { "id": 7, "entity": "股内侧部", "start_offset": 55, "end_offset": 59, "label": "bod" } ]

在睾酮的作用下，引带容积增大、肿胀带容积增大、肿胀，精索血管也延长增粗呈曲张状睾丸即沿着引带扩张过的腹股沟管如果睾丸在其下降过程中停留在腹股沟管或内、外环附近下降不全。

[ { "id": 0, "entity": "睾酮", "start_offset": 1, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "引带容积增大、肿胀", "start_offset": 8, "end_offset": 17, "label": "sym" }, { "id": 2, "entity": "精索血管", "start_offset": 26, "end_offset": 30, "label": "bod" }, { "id": 3, "entity": "精索血管也延长增粗呈曲张状", "start_offset": 26, "end_offset": 39, "label": "sym" }, { "id": 4, "entity": "睾丸", "start_offset": 39, "end_offset": 41, "label": "bod" }, { "id": 5, "entity": "腹股沟管", "start_offset": 50, "end_offset": 54, "label": "bod" }, { "id": 6, "entity": "睾丸即沿着引带扩张过的腹股沟管", "start_offset": 39, "end_offset": 54, "label": "sym" }, { "id": 7, "entity": "睾丸", "start_offset": 56, "end_offset": 58, "label": "bod" }, { "id": 8, "entity": "腹股沟管", "start_offset": 68, "end_offset": 72, "label": "bod" }, { "id": 9, "entity": "如果睾丸在其下降过程中停留在腹股沟管或内、外环附近", "start_offset": 54, "end_offset": 79, "label": "sym" }, { "id": 10, "entity": "下降不全", "start_offset": 79, "end_offset": 83, "label": "dis" } ]

如睾丸沿睾丸引带末端的其他分支下降至耻骨部、会阴部或股部，未降至阴囊底部异位睾丸。

[ { "id": 0, "entity": "睾丸", "start_offset": 1, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "睾丸", "start_offset": 4, "end_offset": 6, "label": "bod" }, { "id": 2, "entity": "耻骨部", "start_offset": 18, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "会阴部", "start_offset": 22, "end_offset": 25, "label": "bod" }, { "id": 4, "entity": "股部", "start_offset": 26, "end_offset": 28, "label": "bod" }, { "id": 5, "entity": "阴囊", "start_offset": 32, "end_offset": 34, "label": "bod" }, { "id": 6, "entity": "如睾丸沿睾丸引带末端的其他分支下降至耻骨部、会阴部或股部，未降至阴囊底部", "start_offset": 0, "end_offset": 36, "label": "sym" }, { "id": 7, "entity": "异位睾丸", "start_offset": 36, "end_offset": 40, "label": "dis" } ]

但睾丸引带的形态结构及功能效应并不明确，人类胚胎中，引带和阴囊仅有微弱的附着，可能不足以支持对睾丸的任何牵拉。

[ { "id": 0, "entity": "引带", "start_offset": 26, "end_offset": 28, "label": "bod" }, { "id": 1, "entity": "阴囊", "start_offset": 29, "end_offset": 31, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 47, "end_offset": 49, "label": "bod" } ]

2.腹内压作用腹内压增高造成睾丸离开腹部进入腹股沟管先天性腹壁肌肉发育不良的综合征，李状腹综合征（Prune-bellysyndrome），常伴有双侧腹腔内隐睾。

[ { "id": 0, "entity": "睾丸", "start_offset": 14, "end_offset": 16, "label": "bod" }, { "id": 1, "entity": "腹股沟管", "start_offset": 22, "end_offset": 26, "label": "bod" }, { "id": 2, "entity": "腹内压增高造成睾丸离开腹部进入腹股沟管", "start_offset": 7, "end_offset": 26, "label": "sym" }, { "id": 3, "entity": "先天性腹壁肌肉发育不良的综合征", "start_offset": 26, "end_offset": 41, "label": "dis" }, { "id": 4, "entity": "李状腹综合征", "start_offset": 42, "end_offset": 48, "label": "dis" }, { "id": 5, "entity": "Prune-bellysyndrome", "start_offset": 49, "end_offset": 68, "label": "dis" }, { "id": 6, "entity": "双侧腹腔内隐睾", "start_offset": 73, "end_offset": 80, "label": "dis" } ]

3.内分泌调节内分泌因素在促进睾丸降入阴囊过程中肯定起了重要作用，但其具体的机制尚不明了。

[ { "id": 0, "entity": "睾丸", "start_offset": 15, "end_offset": 17, "label": "bod" }, { "id": 1, "entity": "阴囊", "start_offset": 19, "end_offset": 21, "label": "bod" } ]

【病因】睾丸下降的机制尚未阐明，对隐睾的病因也不太清楚。

[ { "id": 0, "entity": "睾丸下降", "start_offset": 4, "end_offset": 8, "label": "dis" } ]

1.内分泌失调临床研究表明，下丘脑-垂体-睾丸轴失衡导致隐睾患者睾酮水平低于正常睾酮水平密切相关，睾酮-双氢睾酮与精索和阴囊表面的受体蛋白结合，促使睾丸下降五节隐睾隐睾，也称睾丸未降或睾丸下降不全，是指睾丸未能按照正常发育程序从腰部腹膜后下降至阴囊。

[ { "id": 0, "entity": "内分泌失调", "start_offset": 2, "end_offset": 7, "label": "dis" }, { "id": 1, "entity": "下丘脑", "start_offset": 14, "end_offset": 17, "label": "bod" }, { "id": 2, "entity": "垂体", "start_offset": 18, "end_offset": 20, "label": "bod" }, { "id": 3, "entity": "睾丸轴", "start_offset": 21, "end_offset": 24, "label": "bod" }, { "id": 4, "entity": "睾酮", "start_offset": 32, "end_offset": 34, "label": "bod" }, { "id": 5, "entity": "下丘脑-垂体-睾丸轴失衡导致隐睾患者睾酮水平低于正常", "start_offset": 14, "end_offset": 40, "label": "sym" }, { "id": 6, "entity": "睾酮水平", "start_offset": 40, "end_offset": 44, "label": "ite" }, { "id": 7, "entity": "睾酮-双氢睾酮与精索和阴囊表面的受体蛋白结合，促使睾丸下降", "start_offset": 49, "end_offset": 78, "label": "sym" }, { "id": 8, "entity": "隐睾", "start_offset": 82, "end_offset": 84, "label": "dis" }, { "id": 9, "entity": "睾丸未降", "start_offset": 87, "end_offset": 91, "label": "dis" }, { "id": 10, "entity": "睾丸下降不全", "start_offset": 92, "end_offset": 98, "label": "dis" }, { "id": 11, "entity": "睾丸未能按照正常发育程序从腰部腹膜后下降至阴囊", "start_offset": 101, "end_offset": 124, "label": "sym" } ]

隐睾的发病率在生长发育中逐渐降低，早产儿的发病率约30%，新生儿为4%，1岁时为0.66%，成年人为0.3%，表明睾丸的下降是一个渐进的过程，在出生后睾丸仍可继续下降。

[ { "id": 0, "entity": "隐睾", "start_offset": 0, "end_offset": 2, "label": "dis" }, { "id": 1, "entity": "睾丸", "start_offset": 57, "end_offset": 59, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 75, "end_offset": 77, "label": "bod" } ]

【睾丸的下降】胚胎睾丸形成时，其位置相当于第12胸椎。

[ { "id": 0, "entity": "睾丸", "start_offset": 1, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "睾丸", "start_offset": 9, "end_offset": 11, "label": "bod" } ]

随着胚胎时期脊柱的迅速发育，第12胸椎向颅侧移行，睾丸受相对固定的睾丸引带约束不能随第12胸椎上移，其位置反而靠近腹股沟管内环处。

[ { "id": 0, "entity": "睾丸", "start_offset": 33, "end_offset": 35, "label": "bod" }, { "id": 1, "entity": "腹股沟管", "start_offset": 57, "end_offset": 61, "label": "bod" } ]

随之，睾丸从腹股沟管内环经腹股沟管出外环而进入阴囊，是谓睾丸下降过程。

[ { "id": 0, "entity": "睾丸", "start_offset": 3, "end_offset": 5, "label": "bod" } ]

1.睾丸引带的牵拉睾丸引带的近端附着于睾丸和附睾，末端主要附着于阴囊底部，另有部分分别附着于耻骨结节、会阴部或股内侧部。

[ { "id": 0, "entity": "睾丸", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "睾丸", "start_offset": 9, "end_offset": 11, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 19, "end_offset": 21, "label": "bod" }, { "id": 3, "entity": "附睾", "start_offset": 22, "end_offset": 24, "label": "bod" }, { "id": 4, "entity": "阴囊", "start_offset": 32, "end_offset": 34, "label": "bod" }, { "id": 5, "entity": "耻骨结节", "start_offset": 46, "end_offset": 50, "label": "bod" } ]

在睾酮的作用下，引带容积增大、肿胀，精索血管也延长增粗呈曲张状，睾丸即沿着引带扩张过的腹股沟管进入阴囊底部。

[ { "id": 0, "entity": "睾酮", "start_offset": 1, "end_offset": 3, "label": "bod" }, { "id": 1, "entity": "精索血管", "start_offset": 18, "end_offset": 22, "label": "bod" }, { "id": 2, "entity": "睾丸", "start_offset": 32, "end_offset": 34, "label": "bod" }, { "id": 3, "entity": "腹股沟管", "start_offset": 43, "end_offset": 47, "label": "bod" }, { "id": 4, "entity": "阴囊底部", "start_offset": 49, "end_offset": 53, "label": "bod" } ]

如果睾丸在其下降过程中停留在腹股沟管或内、外环附近，则为下降不全。

[ { "id": 0, "entity": "睾丸", "start_offset": 2, "end_offset": 4, "label": "bod" }, { "id": 1, "entity": "腹股沟管", "start_offset": 14, "end_offset": 18, "label": "bod" } ]