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Review
. 2018 Nov;22(4):657-669.
doi: 10.1016/j.cld.2018.06.003. Epub 2018 Aug 3.

Progressive Familial Intrahepatic Cholestasis

Laura N Bull  1 , Richard J Thompson  2
Affiliations
Free article
Review

Progressive Familial Intrahepatic Cholestasis

Laura N Bull et al. Clin Liver Dis. 2018 Nov.
Free article

Abstract

Genetic cholestasis has been dissected through genetic investigation. The major PFIC genes are now described. ATP8B1 encodes FIC1, ABCB11 encodes BSEP, ABCB4 encodes MDR3, TJP2 encodes TJP2, NR1H4 encodes FXR, and MYO5B encodes MYO5B. The full spectra of phenotypes associated with mutations in each gene are discussed, along with our understanding of the disease mechanisms. Differences in treatment response and targets for future treatment are emerging.

Keywords: Bile acids; Cholestasis; Genetics; PFIC; Pediatrics.

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