+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy



Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy



Best Practice and Research. Clinical Gastroenterology 24(5): 541-553



Progressive familial intrahepatic cholestasis (PFIC) type 1, 2 and 3 are due to mutations in ATP8B1, ABCB11 and ABCB4, respectively. Each of these genes encodes a hepatocanalicular transporter, which is essential for the proper formation of bile. Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis, referred to as benign recurrent intrahepatic cholestasis (BRIC) type 1 and 2, as well as in progressive cholestatic disease. This suggests a clinical continuum and these diseases are therefore preferably referred to as ATP8B1 deficiency and ABCB11 deficiency. Similarly PFIC type 3 is designated as ABCB4 deficiency. Heterozygous mutations in each of these transporters can also be associated with intrahepatic cholestasis of pregnancy. This review summarizes the pathophysiology, clinical features and current as well as future therapeutic options for progressive familial- and benign recurrent intrahepatic cholestasis as well as intrahepatic cholestasis of pregnancy.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 053204004

Download citation: RISBibTeXText

PMID: 20955958

DOI: 10.1016/j.bpg.2010.07.010


Related references

Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: Low GGT cholestasis is a clinical continuum. Journal of Hepatology 36(3): 439-443, 2002

NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations. Clinics and Research in Hepatology and Gastroenterology 36(6): 569-573, 2012

Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Human Molecular Genetics 4(6): 1049-1053, 1995

Benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis linked to PFIC1 Points on a continuum. Hepatology 26(4 Part 2): 384A, 1997

Phenotype-genotype correlations in progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis. Hepatology 30(4 Part 2): 530A, 1999

Familial benign recurrent intrahepatic cholestasis. Interrelation with intrahepatic cholestasis of pregnancy and from oral contraceptives?. Gastroenterology 71(2): 202-207, 1976

Effects of bezafibrate on dyslipidemia with cholestasis in children with familial intrahepatic cholestasis-1 deficiency manifesting progressive familial intrahepatic cholestasis. Metabolism: Clinical and Experimental 58(1): 48-54, 2009

Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review. Acta Gastro-Enterologica Belgica 75(4): 405-410, 2012

Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. Hepatology 50(5): 1597-1605, 2009

Effects of bezafibrate on dyslipidemia with cholestasis in children with familial intrahepatic cholestasisa“1 deficiency manifesting progressive familial intrahepatic cholestasis. 2009

Enterocyte inclusions are associated with diarrhea in both genetically documented progressive familial intrahepatic cholestasis, type 1, and intrahepatic cholestasis characterized by coarsely granular Byler bile. Hepatology 32(4 Pt 2): 211A, 2000

Study on relationship between expression of familial intrahepatic cholestasis 1 mRNA in placenta and Intrahepatic cholestasis of pregnancy. Sichuan Da Xue Xue Bao. Yi Xue Ban 39(3): 430-433, 2008

Recurrent benign intrahepatic cholestasis and their progression to familiar progressive intrahepatic cholestasis. Revista de Gastroenterologia del Peru 28(2): 183-188, 2008

Intrahepatic cholestasis. A review and a case report of benign recurrent intrahepatic cholestasis. Tidsskrift for den Norske Laegeforening 105(31): 2211-2213, 1985

Alloimmunity and Cholestasis After Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis. Journal of Pediatric Gastroenterology and Nutrition 68(2): 169-174, 2019