Byler-like familial cholestasis in an extended kindred
Byler-like familial cholestasis in an extended kindred
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DOI：
10.1136/adc.75.3.223
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发表时间：
1996-09-01
影响因子：
5.2
通讯作者：
Drumm, B
中科院分区：
文献类型：
--
作者：
Bourke, B;Goggin, N;Drumm, B
进行性家族性肝内胆汁淤积症（PFIC）发生在许多社区和种族。本文描述了一个爱尔兰家族中两次近亲结婚所生的五个孩子的一种形式的PFIC。此外，对三名已故亲属的临床资料进行审查后发现，他们也患有PFIC。这些孩子有新生儿腹泻、败血症和间歇性黄疸的病史，最终成为永久性的。他们患有顽固性瘙痒症和生长迟缓。尽管有严重胆汁淤积的证据，这些儿童的血清γ-谷氨酰转移酶和胆固醇是正常的。3例患儿汗液钠浓度升高。肝组织学显示严重的肝内胆汁淤积和肝细胞损伤。尿胆汁酸分析显示与慢性胆汁淤积一致的非特异性模式。这些儿童患有一种形式的PFIC，与Byler家族成员的情况非常相似。
Progressive familial intrahepatic cholestasis (PFIC) occurs in many communities and races. A form of PFIC in five children ti om two consanguineous marriages in an Irish kindred is described. In addition, a review of clinical information from the records of three deceased members of the kindred strongly implies that they also suffered from PFIC. The children had a history of neonatal diarrhoea, sepsis, and intermittent jaundice that ultimately became permanent. They suffered intractable pruritus and growth retardation. Despite evidence of severe cholestasis, serum gamma-glutamyl transferase and cholesterol were normal in these children. Sweat sodium concentration were raised in three children. Liver histology showed severe intrahepatic cholestasis and hepatocellular injury. Urinary bile acid analysis revealed a non-specific pattern consistent with chronic cholestasis. These children suffer from a form of PFIC remarkably similar to that occurring in members of the Byler kindred.