Benign recurrent intrahepatic cholestasis

Definition:

Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent episodes of severe cholestatic jaundice. It is caused by mutations in the ATP8B1 and ABCB11 genes, which are the same as in progressive familial intrahepatic cholestasis 1 and 2 (PFIC1 and PFIC2), and probably in at least one other as yet unidentified gene. While PFIC starts in infancy or early childhood and often leads to liver cirrhosis, BRIC typically appears before the second decade of life and has a more benign recurrent pattern. Occasionally BRIC will progress to the more severe and permanent form of PFIC.

References:

[1]. Eva Sticova, et al. New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications. Can J Gastroenterol Hepatol. 2018 Jul 26;2018:2313675. [Content Brief]

[2]. Geir Folvik, et al. Benign recurrent intrahepatic cholestasis: review and long-term follow-up of five cases. Scand J Gastroenterol. 2012 Apr;47(4):482-8. [Content Brief]

[3]. L N Bull, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998 Mar;18(3):219-24. [Content Brief]

[4]. Saskia W C van Mil, et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology. 2004 Aug;127(2):379-84. [Content Brief]

[5]. Wendy L van der Woerd, et al. Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy. Best Pract Res Clin Gastroenterol. 2010 Oct;24(5):541-53. [Content Brief]

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