Review
doi: 10.1016/j.cld.2018.06.003.
Epub 2018 Aug 3.
Progressive Familial Intrahepatic Cholestasis
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- PMID: 30266155
- DOI: 10.1016/j.cld.2018.06.003
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Review
Progressive Familial Intrahepatic Cholestasis
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.
Copyright © 2018 Elsevier Inc. All rights reserved.
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