Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.
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.
De Koning
T J
TJ
Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
Sandkuijl
L A
LA
De Schryver
J E
JE
Hennekam
E A
EA
Beemer
F A
FA
Houwen
R H
RH
D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012008:Recurrence