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劳-穆-比三氏综合征伴先天性肝纤维化

Laurence-Moon-Biedl syndrome accompanied by congenital hepatic fibrosis.

作者信息

Nakamura F, Sasaki H, Kajihara H, Yamanoue M

机构信息

Department of Internal Medicine, Hiroshima Memorial Hospital, Japan.

出版信息

J Gastroenterol Hepatol. 1990 Mar-Apr;5(2):206-10. doi: 10.1111/j.1440-1746.1990.tb01826.x.

Abstract

A 33 year old woman with mental deficiency, retinitis pigmentosa, obesity, and parental consanguinity (heredity) was diagnosed as having Laurence-Moon-Biedl syndrome. She also had diabetes mellitus, slight hepatic dysfunction, and hepatomegaly. Liver biopsy showed perilobular fibrosis and bile duct proliferation with cystic dilatation; these findings are consistent with those of congenital hepatic fibrosis.

摘要

一名33岁女性,有智力缺陷、色素性视网膜炎、肥胖及近亲结婚(遗传因素),被诊断为劳伦斯-穆恩-比德尔综合征。她还患有糖尿病、轻度肝功能障碍及肝肿大。肝脏活检显示小叶周围纤维化、胆管增生伴囊性扩张;这些发现与先天性肝纤维化相符。

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