Progressive familial intrahepatic cholestasis

Definition:

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The course of the disease involves portal hypertension, liver failure, cirrhosis, hepatocellular carcinoma along with several extra hepatic manifestations. The pathogenesis of PFIC revolves around defective bile acid synthesis, transport, and/or excretion.

References:

[1]. Amelie Stalke, et al. KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease. J Pediatr. 2022 Jan;240:284-291.e9. [Content Brief]

[2]. Emily Gao, et al. Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea. Hepatology. 2020 May;71(5):1879-1882. [Content Brief]

[3]. J M de Vree, et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci U S A. 1998 Jan 6;95(1):282-7. [Content Brief]

[4]. Jing Zhang, et al. Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization. Liver Int. 2020 May;40(5):1142-1150. [Content Brief]

[5]. Kavita Gaur, et al. Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease. Indian J Pathol Microbiol. 2017 Jan-Mar;60(1):2-7. [Content Brief]

[6]. 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]

[7]. Melissa Sambrotta, et al. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014 Apr;46(4):326-8. [Content Brief]

[8]. Natalia Gomez-Ospina, et al. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nat Commun. 2016 Feb 18;7:10713. [Content Brief]

[9]. S S Strautnieks, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998 Nov;20(3):233-8. [Content Brief]

[10]. Syed Amer, et al. A Comprehensive Review of Progressive Familial Intrahepatic Cholestasis (PFIC): Genetic Disorders of Hepatocanalicular Transporters. Gastroenterology Res. 2014 Apr;7(2):39-43. [Content Brief]

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