Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis

Am J Med Genet. 1995 Jul 3;57(3):479-82. doi: 10.1002/ajmg.1320570324.

Abstract

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal-recessive and autosomal-dominant inheritance have been considered. We describe a large Dutch pedigree with 4 patients, strongly suggesting autosomal-recessive inheritance.

Publication types

  • Case Reports

MeSH terms

  • Cholestasis, Intrahepatic / genetics*
  • Consanguinity
  • Female
  • Genes, Recessive*
  • Genetic Carrier Screening
  • Humans
  • Infant
  • Male
  • Pedigree
  • Recurrence