国家卫生健康委办公厅关于印发罕见病诊疗指南（2019年版）的通知 国卫办医函〔2019〕198号 各省、自治区、直辖市及新疆生产建设兵团卫生健康委（卫生计生委）： 为提高我国罕见病规范化诊疗水平，保障医疗质量和医疗安全，维护罕见病患者健康权益，根据我委等5部门印发的《第一批罕见病目录》，我委组织国家卫生健康委罕见病诊疗与保障专家委员会办公室（中国医学科学院北京协和医院）牵头制定了《罕见病诊疗指南（2019年版）》（可在国家卫生健康委网站“医政医管”栏目下载）。现印发给你们，供各地参考使用。 国家卫生健康委办公厅 2019年2月27日 目录
1. 21-羟化酶缺乏症................................................................................
1 2.白化病....................................................................................................
8 3.奥尔波特综合征....................................................................................13 4.肌萎缩侧索硬化....................................................................................19 5.天使综合征........................................................................................
...26 6.精氨酸酶缺乏症....................................................................................32 7.窒息性胸腔失养症（热纳综合征）...................................................36 8.非典型溶血性尿毒症综合征...............................................................42 9.自身免疫性脑炎....................................................................................47 10.自身免疫性垂体炎.............................................................................57 11.自身免疫性胰岛素受体病.................................................................65 12.β-酮硫解酶缺乏症.............................................................................71 13.生物素酶缺乏症.................................................................................76 14.心脏离子通道病.................................................................................81 15.原发性肉碱缺乏症............................................................................90 16.Castleman 病...................................................................................94 17.腓骨肌萎缩症.....................................................................................99 18.瓜氨酸血症........................................................................................104 19.先天性肾上腺发育不良....................................................................109 20.先天性高胰岛素性低血糖血症........................................................114 21.先天性肌无力综合征.........................................................................120 22.先天性肌强直......................................................................................128 23.先天性脊柱侧凸..................................................................................132 24.冠状动脉扩张......................................................................................138 25.先天性纯红细胞再生障碍性贫血.....................................................143 26.Erdheim-Chester 病.......................................................................150 27.法布里病.............................................................................................
156 28.家族性地中海热..................................................................................163 29.范科尼贫血..........................................................................................170 30.半乳糖血症..........................................................................................
175 31.戈谢病.................................................................................................
..180 32.全身型重症肌无力...............................................................................187 33.Gitelman 综合征................................................................................193 34.戊二酸血症Ⅰ型....................................................................................199 35.糖原累积病（Ⅰ型、Ⅱ型）...............................................................205 36.血友病................................................................................................
...214 37.肝豆状核变性.......................................................................................221 38.遗传性血管性水肿...............................................................................227 39.遗传性大疱性表皮松解症...................................................................233 40.遗传性果糖不耐受症...........................................................................239 41.遗传性低镁血症...................................................................................244 42.遗传性多发脑梗死性痴呆...................................................................251 43.遗传性痉挛性截瘫...............................................................................258 44.全羧化酶合成酶缺乏症.......................................................................264 45.高同型半胱氨酸血症...........................................................................268 46.纯合子家族性高胆固醇血症..............................................................
274 47.亨廷顿病...............................................................................................
282 48.HHH 综合征（高鸟氨酸血症-高氨血症-同型瓜氨酸尿症）.......289 49.高苯丙氨酸血症....................................................................................294 50.低磷酸酯酶症.........................................................................................303 51.低血磷性佝偻病.....................................................................................309 52.特发性心肌病.........................................................................................315 53.特发性低促性腺激素性性腺功能减退症............................................324 54.特发性肺动脉高压..................................................................................331 55.特发性肺纤维化......................................................................................339 56.IgG4 相关性疾病...................................................................................346 57.先天性胆汁酸合成障碍..........................................................................351 58.异戊酸血症...............................................................................................356 59.卡尔曼综合征..........................................................................................
362 60.朗格汉斯细胞组织细胞增生症.............................................................366 61.莱伦综合征..............................................................................................371 62.Leber 遗传性视神经病变.....................................................................379 63.长链-3-羟酰基辅酶 A 脱氢酶缺乏症................................................385 64.淋巴管肌瘤病...........................................................................................389 65.赖氨酸尿蛋白不耐受症..........................................................................396 66.溶酶体酸性脂肪酶缺乏症......................................................................403 67.枫糖尿症..................................................................................................
408 68.马方综合征..............................................................................................
414 69.McCune-Albright 综合征...................................................................420 70.中链酰基辅酶 A 脱氢酶缺乏症...........................................................426 71.甲基丙二酸血症.......................................................................................430 72.线粒体脑肌病...........................................................................................
437 73.黏多糖贮积症............................................................................................448 74.多灶性运动神经病...................................................................................457 75.多种酰基辅酶 A 脱氢酶缺乏症...........................................................
463 76.多发性硬化................................................................................................468 77.多系统萎缩................................................................................................477 78.强直性肌营养不良....................................................................................483 79. N-乙酰谷氨酸合成酶缺乏症................................................................
489 80.新生儿糖尿病...........................................................................................
495
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