Liver in the cerebro-hepato-renal syndrome: Defective bile acid synthesis and abnormal mitochondria
Liver in the cerebro-hepato-renal syndrome: Defective bile acid synthesis and abnormal mitochondria
复制标题
脑肝肾综合征中的肝脏：胆汁酸合成缺陷和线粒体异常
DOI：
10.1016/0016-5085(80)90931-2
复制
发表时间：
1980
期刊：
影响因子：
29.4
通讯作者：
I. Lott
中科院分区：
文献类型：
--
作者：
R. Mathis;J. Watkins;Patricia Szczepanik;I. Lott
Two infants with the cerebro-hepato-renal syndrome (Zellweger's disease) exhibited cholestasis and progressive liver damage. Because abnormalities of mitochondrial structure and function have been reported in this condition, we examined the bile acids for evidence of defects in the mitochondrial phase of bile acid synthesis, namely, oxidation of the cholesterol side chain to form C-24 bile acids. The presence of increased amounts of the C-27 bile acid intermediates (trihydroxycoprostanic acid, varanic acid, and dihydroxycoprostanic acid) were noted and identified by gas-liquid chromatography-mass spectroscopy confirming that a defect in the mitochondrial pathways for bile acid side chain cleavage is involved in this entity. The clinical course, liver histopathology, and hepatocyte ultrastructural abnormalities suggest that these bile acids may reflect an underlying mitochondrial dysfunction in this disease and possibly may contribute to the progressive hepatic lobular fibrosis observed in these patients.
