Inheritance of intrahepatic cholestasis of pregnancy in one kindred

Clin Genet. 1993 Jun;43(6):315-7. doi: 10.1111/j.1399-0004.1993.tb03826.x.

Abstract

We report three sisters with intrahepatic cholestasis of pregnancy (ICP) and the pedigree of the family, including six generations. ICP was observed in five successive generations; most of the patients also had cholelithiasis. The uniform expression, the complete penetrance of the trait and the direct parent-to-child transmission support the Mendelian dominant mode of inheritance. Determination of HLA A, B and C haplotype was made in five ICP patients, without any findings of HLA type common to everyone. X-linked inheritance cannot be excluded in this study.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cholestasis, Intrahepatic / genetics*
  • Cholestasis, Intrahepatic / immunology
  • Female
  • HLA Antigens / genetics*
  • Haplotypes
  • Humans
  • Pedigree
  • Pregnancy
  • Pregnancy Complications* / immunology

Substances

  • HLA Antigens