Liver involvement in children with ciliopathies

Clin Res Hepatol Gastroenterol. 2014 Sep;38(4):407-14. doi: 10.1016/j.clinre.2014.04.001. Epub 2014 Jun 19.

Abstract

Abnormalities in primary cilia lead to diseases called ciliopathies. Multiple organ involvement is the norm since primary cilia are present in most cells. When cholangiocyte cilia are abnormal, ductal plate malformation ensues leading to such conditions as congenital hepatic fibrosis, Caroli disease or syndrome, or other fibrocystic disease.

Publication types

  • Review

MeSH terms

  • Child
  • Ciliary Motility Disorders / complications*
  • Genetic Diseases, Inborn
  • Humans
  • Liver Cirrhosis
  • Liver Diseases / diagnosis
  • Liver Diseases / etiology*

Supplementary concepts

  • Hepatic Fibrosis, Congenital