Hansen H J, Iepsen A W, Schmidt A
Acta Hepatogastroenterol (Stuttg). 1978 Aug;25(4):279-82.
Congenital Hepatic fibrosis is an uncommon disease, which is autosomal recessive. Two forms of the disease are distinguished: a rare one becoming manifest in the neonatal period with signs of progressive renal failure secondary to polycystic kidneys, in such cases the liver fibrosis is usually asymptomatic, and the diagnosis is therefore often first established post mortem. In the other more usual form the patients present during infancy with bleeding from rupture of esophageal varices caused by portal hypertension. One case is reported, and the history of his two brothers are referred to. In our case a portacaval anastomosis was performed and the patient is asymptomatic with no signs of encephalopathy. His two brothers died, one of bleeding from esophageal varices, the other of hemolytic anemia. In both cases the diagnosis was first made post mortem.
先天性肝纤维化是一种罕见的常染色体隐性疾病。该疾病有两种类型：一种罕见类型在新生儿期出现，伴有多囊肾继发的进行性肾衰竭体征，在这种情况下，肝脏纤维化通常无症状，因此诊断往往在尸检后才首次确立。另一种较常见的类型中，患者在婴儿期因门静脉高压导致食管静脉曲张破裂出血。本文报告了一例病例，并提及了他两个兄弟的病史。在我们的病例中，进行了门腔静脉吻合术，患者无症状，无脑病迹象。他的两个兄弟均已去世，一个死于食管静脉曲张出血，另一个死于溶血性贫血。在这两个病例中，诊断均首先在尸检后做出。
