| 国家卫生健康委办公厅关于印发软骨发育不全等 86个罕见病病种诊疗指南(2025年版)的通知 国卫办医政函〔2025〕252号 各省、自治区、直辖市及新疆生产建设兵团卫生健康委： 为进一步提高罕见病诊疗规范化水平，保障医疗质量安全，我委组织对《第二批罕见病目录》中软骨发育不全等86个病种分别制定了诊疗指南(见附件，可在国家卫生健康委网站医政司栏目下载)。现印发给你们，请各地卫生健康行政部门做好组织实施工作。 附件：86个罕见病病种诊疗指南（2025年版） 国家卫生健康委办公厅 2025年6月17日 86 个罕见病病种诊疗指南（2025
年版）目录 1.软骨发育不全.............................................................1 2.获得性血友病.............................................................5 3.肢端肥大症................................................................12 4.成人斯蒂尔病............................................................17 5.阿拉杰里综合征........................................................22 6.α1-抗胰蛋白酶缺乏症.............................................27 7.ANCA 相关血管炎.............................................. .....33 8.Ba rde t-Biedl 综合征............................................
...40 9.白塞病/贝赫切特综合征..........................................50 10.蓝色橡皮疱样痣.....................................................57 11.细胞周期蛋白依赖性激酶样 5 缺乏症................60 12.无脉络膜症.............................................................63 13.慢性炎性脱髓鞘性多发性神经根神经病.............70 14.肾透明细胞肉瘤.....................................................76 15.冷凝集素病.............................................................82 16.先天性胆道闭锁.....................................................87 17.先天性凝血因子Ⅶ 缺乏症....................................90 18.NLRP3-相关自身炎症性疾病...................................96 19.梅克尔细胞癌.........................................................101 20.皮肤 T 细胞淋巴瘤................................................106 21.胱氨酸贮积症.........................................................122 22.隆突性皮肤纤维肉瘤.............................................127 23.嗜酸性粒细胞性胃肠炎.........................................134 24.上皮样肉瘤.............................................................139 25.面肩肱型肌营养不良症.........................................144 26.家族性噬血细胞淋巴组织细胞增生症.................151 27.家族性腺瘤性息肉病.............................................155 28.进行性骨化性纤维发育不良.................................160 29.脆性 X 综合征........................................................164 30.神经节苷脂贮积症.................................................168 31.胃肠胰神经内分泌肿瘤.........................................173 32.胃肠间质瘤.............................................................180 33.泛发性脓疱型银屑病.............................................185 34.遗传性甲状旁腺功能减退症.................................189 35.巨细胞动脉炎..........................................................200 36.骨巨细胞瘤..............................................................206 37.血小板无力症.........................................................210 38.胶质母细胞瘤.........................................................215 39.高林综合征.............................................................224 40.化脓性汗腺炎.........................................................229 41.早老症.....................................................................236 42.炎性肌纤维母细胞瘤.............................................245 43.Lebe r 先天性黑矇.................................................251 44.Lennox-Ga staut 综合征.........................................257 45.角膜缘干细胞缺乏症..............................................261 46.恶性高热..................................................................265 47.恶性胸膜间皮瘤......................................................269 48.黑色素瘤..................................................................278 49.异染性脑白质营养不良..........................................283 50.单基因非综合征性肥胖..........................................288 51.多发性内分泌腺瘤病..............................................291 52.发作性睡病..............................................................295 53.神经母细胞瘤..........................................................303 54.神经纤维瘤病..........................................................314 55.神经元蜡样脂褐质沉积症......................................326 56.神经营养性角膜炎..................................................336 57.骨肉瘤......................................................................341 58.天疱疮......................................................................346 59.新生儿持续肺动脉高压..........................................350 60.嗜铬细胞瘤/副神经节瘤........................................356 61.PIK3CA 相关过度生长综合征..............................360 62.真性红细胞增多症..................................................363 63.原发性胆汁性胆管炎..............................................371 64.原发性生长激素缺乏症..........................................374 65.原发性胰岛素样生长因子-1 缺乏症.....................382 66.原发性免疫缺陷病..................................................385 67.原发性骨髓纤维化..................................................392 68.原发性硬化性胆管炎..............................................401 69.进行性纤维化性间质性肺疾病..............................408 70.复发性心包炎..........................................................412 71.早产儿视网膜病......................................................417 72.Re tt 综合征............................................................423 73.短肠综合征..............................................................428 74.全身型幼年特发性关节炎......................................436 75.系统性肥大细胞增多症..........................................443 76.大动脉炎..................................................................454 77.腱鞘巨细胞瘤/色素沉着绒毛结节性滑膜炎.........462 78.地中海贫血(重型)....................................................466 79.血栓性血小板减少性紫癜......................................472 80.转甲状腺素蛋白淀粉样变性..................................478 81.肿瘤坏死因子受体相关周期性综合征..................486 82.肿瘤相关骨软化症..................................................490 83.Von Hippe l-Lindau 综合征.....................................494 84.血管性血友病 3 型.................................................500 85.华氏巨球蛋白血症/淋巴浆细胞淋巴瘤................505 86.We st 综合征/婴儿癫痫痉挛综合征....................509 |
