Association of congenital hepatic fibrosis with autosomal dominant polycystic kidney disease. Report of a family with review of literature

Pediatr Radiol. 1993;23(2):131-3. doi: 10.1007/BF02012406.

Abstract

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Child, Preschool
  • Female
  • Humans
  • Hypertension, Portal / complications
  • Liver Cirrhosis / complications*
  • Liver Cirrhosis / congenital*
  • Liver Cirrhosis / diagnostic imaging
  • Male
  • Middle Aged
  • Pedigree
  • Polycystic Kidney, Autosomal Dominant / complications*
  • Polycystic Kidney, Autosomal Dominant / diagnostic imaging
  • Polycystic Kidney, Autosomal Dominant / genetics*
  • Ultrasonography