Hyams J S, Berman M M, Davis B H
Gastroenterology. 1983 Aug;85(2):430-4.
An infant with a variant of arteriohepatic dysplasia (characteristic facies, valvular and peripheral pulmonic stenosis, hypercholesterolemia, intrahepatic cholestasis) and a severe tubulointerstitial nephropathy is described. Liver biopsy at 2 mo and at 10 mo of age revealed marked hepatocellular cholestasis and a slight decrease in the number of interlobular bile ducts per portal triad. Severe fibrosis was noted at 10 mo. Renal findings included tubular atrophy, microcystic tubular dilatation, and interstitial fibrosis. Death at 10 mo was associated with renal failure and pneumonia. The case suggests an additional association between renal cystic disease and abnormalities of the biliary tree.
本文描述了一名患有动脉肝发育不良变异型（特征性面容、瓣膜及外周肺动脉狭窄、高胆固醇血症、肝内胆汁淤积）及严重肾小管间质性肾病的婴儿。2月龄和10月龄时的肝脏活检显示明显的肝细胞胆汁淤积，每个门管区小叶间胆管数量略有减少。10月龄时可见严重纤维化。肾脏表现包括肾小管萎缩、微囊性肾小管扩张和间质纤维化。患儿于10月龄时死于肾衰竭和肺炎。该病例提示肾囊性疾病与胆道树异常之间可能存在额外的关联。
