Progressive familial intrahepatic cholestasis (Byler's disease) in Arab children

A. F. Kagalwalla*, A. R. Al Amir, A. Khalifa, M. Sylven, S. Al Ajaji, Y. A. Kagalwalla

*Corresponding author for this work

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

The clinical, biochemical and histological characteristics in six Arab children with progressive familial intrahepatic cholestasis (PFIC) (Byler's disease) are described. The autosomal recessive mode of inheritance is established. Jaundice and pruritus were early symptoms, with onset in the 1st 3 months in all patients. Other features included growth failure, developmental delay, ataxia, areflexia, gall-stones and epistaxis. Gamma-glutamyl-transpeptidase and cholesterol were normal, but total bile acid levels were uniformly elevated in all patients. Histology showed features of hepato-canalicular cholestasis, lack of bile duct proliferation and fibrosis or cirrhosis in all patients. Five patients who were followed up were alive at a mean age of 75.8 months.

Original languageEnglish (US)
Pages (from-to)321-327
Number of pages7
JournalAnnals of Tropical Paediatrics
Volume15
Issue number4
DOIs
StatePublished - Jan 1 1995

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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