Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rapidly developing hepatic disease that leads to early childhood cirrhosis and liver failure. We present a diagnostically challenging case of a 20-year-old male with 8 years history of recurrent icteric episodes and constantly normal serum levels of GGT. Genetic study disclosed two novel mutations in gene ABCB11 and liver histopa...

OBJECTIVES Familial intrahepatic cholestasis 1 (FIC1) deficiency is caused by a mutation in the ATP8B1 gene. Partial external biliary diversion (PEBD) is pursued to improve pruritus and arrest disease progression. Our aim is to describe clinical variability after PEBD in FIC1 disease. METHODS We performed a single-center, retrospective review of genetically confirmed FIC1 deficient patients w...

Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic disorder that characterized by episodes of followed complete resolution. The episodic nature BRIC raises concerns about its possible trigger factors. Indeed, case reports this orphan disease have associated to some triggers. In the absence any reviews, we reviewed factors and pathophysiology. study consisted systematic search fo...

Benign recurrent intrahepatic cholestasis (BRIC) is a peculiar familial disease caused by mutations of the genes encoding hepatocanalicular flippase for phosphatidylserine (ATP8B1; BRIC type 1) or the bile salt export pump (ABCB11; BRIC type 2). Here, we report on a patient with nasobiliary drainage-refractory BRIC type 2 who improved under plasma separation and anion absorption therapy. We als...