Progressive intrahepatic cholestasis

Common Name(s)

Progressive intrahepatic cholestasis

Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood ({1:Alonso et al., 1994}; {38:Whitington et al., 1994}; {22:Klomp et al., 2004}). Genetic Heterogeneity of Progressive Familial Intrahepatic Cholestasis PFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 ({601847}), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11; {603201}) on chromosome 2q24; PFIC3 ({602347}), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4; {171060}) on chromosome 7q21; and PFIC4 ({615878}), caused by mutation in the TJP2 gene ({607709}) on chromosome 9q12. PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT1; {612346}), whereas PFIC3 is associated with high serum GGT1 levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels ({33:Sambrotta et al., 2014}). There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 ({607765}).
 

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Condition Specific Organizations

Following organizations serve the condition "Progressive intrahepatic cholestasis" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Progressive intrahepatic cholestasis" returned 28 free, full-text research articles on human participants. First 3 results:

Novel ATP8B1 mutation in an adult male with progressive familial intrahepatic cholestasis.
 

Author(s): Bao-Cheng Deng, Sa Lv, Wei Cui, Rui Zhao, Xu Lu, Jian Wu, Pei Liu

Journal: World J. Gastroenterol.. 2012 Nov;18(44):6504-9.

 

Progressive familial intrahepatic cholestasis type 1 is a rare disease that is characterized by low serum γ-glutamyltransferase levels due to mutation in ATP8B1. We present a 23-year-old male who experienced persistent marked pruritus for eighteen years and recurrent jaundice for ...

Last Updated: 30 Nov 2012

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Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.
 

Author(s): Alex Stone, Christopher Chau, Christian Eaton, Emily Foran, Mridu Kapur, Edward Prevatt, Nathan Belkin, David Kerr, Torvald Kohlin, Patrick Williamson

Journal: J. Biol. Chem.. 2012 Nov;287(49):41139-51.

 

Mutations in the P4-ATPase ATP8B1 cause the inherited liver disease progressive familial intrahepatic cholestasis. Several of these mutations are located in conserved regions of the transmembrane domain associated with substrate binding and transport. Assays for P4-ATPase-mediated ...

Last Updated: 3 Dec 2012

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Progressive familial intrahepatic cholestasis type 3: overlapping presentation with Wilson disease.
 

Author(s): Ramya Ramraj, Milton J Finegold, Saul J Karpen

Journal: Clin Pediatr (Phila). 2012 Jul;51(7):689-91.

 

Last Updated: 25 Jun 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Progressive intrahepatic cholestasis" returned 2 free, full-text review articles on human participants. First 3 results:

Progressive familial intrahepatic cholestasis.
 

Author(s): Tomohide Hori, Justin H Nguyen, Shinji Uemoto

Journal: HBPD INT. 2010 Dec;9(6):570-8.

 

Three types of progressive familial intrahepatic cholestasis (PFIC) have been identified, but their etiologies include unknown mechanisms.

Last Updated: 7 Dec 2010

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Progressive familial intrahepatic cholestasis.
 

Author(s): Anne Davit-Spraul, Emmanuel Gonzales, Christiane Baussan, Emmanuel Jacquemin

Journal:

 

Progressive familial intrahepatic cholestasis (PFIC) refers to heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin. The exact prevalence remains unknown, but the estimated incidence varies ...

Last Updated: 25 Feb 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 17 Jul 2014

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Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease
 

Status: Available

Condition Summary: Byler Disease

 

Last Updated: 19 Mar 2014

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Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease
 

Status: Recruiting

Condition Summary: Alagille Syndrome; Progressive Familial Intrahepatic Cholestasis

 

Last Updated: 6 Jul 2014

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