原发性胆管炎或原发性硬化性胆管炎合并自身免疫性肝炎综合征
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
定义 英文原文（暂无中文）
A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common.
别名
原发性胆管炎或原发性硬化性胆管炎合并自身免疫性肝炎重叠综合征
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 各年龄段
临床表型 36
极常见 99–80%2
- 自身免疫性抗体阳性 HP:0030057
- 界面性肝炎 HP:0032220
常见 79–30%16
- 胆总管形态异常 HP:0100889
- 肝内胆管形态异常 HP:0011040
- 抗Gerbich表型1抗体阳性 HP:0034110
- 抗Kelch样蛋白12抗体阳性 HP:0034115
- 抗MIT3抗体阳性 HP:0034111
- 抗Ro52/TRIM21抗体阳性 HP:0034093
- 抗Y盒蛋白1抗体阳性 HP:0034108
- 抗糖蛋白-210抗体阳性 HP:0033562
- 抗己糖激酶1抗体阳性 HP:0034114
- 抗p53抗体阳性 HP:0034107
- 抗sp100抗体阳性 HP:0034155
- 抗核抗体阳性 HP:0003493
- 循环肝转氨酶水平升高 HP:0002910
- 疲乏 HP:0012378
- 循环IgG水平升高 HP:0003237
- 瘙痒 HP:0000989
偶见 29–5%17
- 抗肝细胞胞浆抗原1型抗体阳性 HP:0030909
- 线粒体抗体阳性 HP:0030167
- 关节疼痛 HP:0002829
- 胆汁淤积 HP:0001396
- 胆汁淤积性肝病 HP:0002611
- 肝硬化 HP:0001394
- 碱性磷酸酶升高 HP:0003155
- γ-谷氨酰转移酶活性增高 HP:0030948
- 肉芽肿 HP:0032252
- 肉芽肿性胆管炎 HP:0030988
- 高胆红素血症 HP:0002904
- 循环IgM水平升高 HP:0003496
- 大肠炎症 HP:0002037
- 小叶间胆道破坏 HP:0025344
- 硬化性胆管炎 HP:0030991
- 抗平滑肌抗体阳性 HP:0003262
- 溃疡性结肠炎 HP:0100279
罕见 <4–1%1
- 肝肾微粒体1型抗体阳性 HP:0030908
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）