INTRAHEPATIC CHOLESTASIS FACIES - IS IT SPECIFIC FOR ALAGILLE SYNDROME
INTRAHEPATIC CHOLESTASIS FACIES - IS IT SPECIFIC FOR ALAGILLE SYNDROME
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DOI：
10.1016/s0022-3476(83)80345-x
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发表时间：
1983-01-01
影响因子：
5.1
通讯作者：
BALISTRERI, WF
中科院分区：
文献类型：
--
作者：
SOKOL, RJ;HEUBI, JE;BALISTRERI, WF
1975 年，Alagille 描述了一种与特征性面部特征（突出的前额、深陷的眼睛、轻度距离过远、笔直的鼻子和小尖下巴）相关的肝内胆道发育不全的综合征形式。为了测试 Alagille 综合征面部特征的特异性，来自美国和加拿大的 13 名儿科肝病专家以及 Alagille 和他的 8 名法国同事检查了 15 名患有各种形式肝内胆汁淤积的儿童和年轻人（其中 7 名患有 Alagille 综合征）的特写面部照片，但他们并不知道具体的诊断结果。要求每位检查者识别具有阿拉吉尔综合征面貌特征的患者。美国/加拿大组 51% 的相匹配和法国组 49% 的相匹配与潜在肝脏疾病（是否存在阿拉吉尔综合征）不正确。基于美国/加拿大和法国组，诊断 Alagille 综合征的面相诊断敏感性分别为 54% 和 32%，特异性为 44% 和 68%，预测值分别为 46% 和 47%。胆汁淤积面容并非 Alagille 综合征所特有的；相反，这似乎是先天性肝内胆汁淤积性肝病的一般特征。
In 1975 Alagille described a syndromatic form of intrahepatic biliary hypoplasia associated with characteristic facial features (prominent forehead, deep-set eyes, mild hypertelorism, straight nose and small pointed chin). To test the specificity of the facies for Alagille syndrome, close-up facial photographs of 15 children and young adults with various forms of intrahepatic cholestasis (including 7 with Alagille syndrome) were examined by 13 pediatric hepatologists from the US and Canada and by Alagille and 8 of his coworkers from France, without knowledge of the individual diagnoses. Each examiner was asked to identify the patients with facies characteristics for Alagille syndrome. Fifty-one percent of the US/Canadian group''s matchings and 49% of the French group''s matchings of facies to underlying liver disease (presence or absence of Alagille syndrome) were incorrect. The sensitivity of the facies for diagnosing Alagille syndrome was 54% and 32%, the specificity 44% and 68% and the predictive value 46% and 47% based on the USA/Canadian and French groups, respectively. Cholestasis facies does not appear specific for Alagille syndrome; rather, it seems to be a general feature of congenital intrahepatic cholestatic liver disease.