Lipschitz B, Berdon W E, Defelice A R, Levy J
Department of Pediatric Gastrointestinal Diseases, Babies Hospital, Columbia Presbyterian Medical Center, New York, NY 10032.
Pediatr Radiol. 1993;23(2):131-3. doi: 10.1007/BF02012406.
The association of autosomal recessive polycystic kidney disease (ARPKD) with congential hepatic fibrosis (CHF) is well known; a rare occurrence is that of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease (ADPKD). We report a family with ADPKD in which congenital hepatic fibrosis with severe portal hypertension (PHT) presented in a 4-year-old girl; the kidneys were initially normal. Typical changes of autosomal dominant polycystic kidney disease developed in the next decade and were also found in the mother and sister (neither of whom had any evidence of portal hypertension). Severe variceal bleeding was treated by sclerotherapy and beta receptor blocade.
常染色体隐性多囊肾病（ARPKD）与先天性肝纤维化（CHF）的关联已广为人知；而先天性肝纤维化与常染色体显性多囊肾病（ADPKD）同时出现则较为罕见。我们报告了一个患有ADPKD的家族，该家族中一名4岁女孩出现了伴有严重门静脉高压（PHT）的先天性肝纤维化；其肾脏最初是正常的。在接下来的十年中，出现了常染色体显性多囊肾病的典型变化，并且在其母亲和姐姐身上也发现了这种变化（她们两人均无门静脉高压的迹象）。严重的静脉曲张出血通过硬化疗法和β受体阻滞剂进行了治疗。
