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; PFIC4 ({615878}), caused by mutation in the TJP2 gene ({607709}) on chromosome 9q12; and PFIC5 ({617049}), caused by mutation in the NR1H4 gene ({603826}) on chromosome 12q. PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT 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}). PFIC5 is associated with low to normal GGT levels. There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 ({607765}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 38 free, full-text research articles on human participants. First 3 results:

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.
 

Author(s): Natalia Gomez-Ospina, Carol J Potter, Rui Xiao, Kandamurugu Manickam, Mi-Sun Kim, Kang Ho Kim, Benjamin L Shneider, Jennifer L Picarsic, Theodora A Jacobson, Jing Zhang, Weimin He, Pengfei Liu, A S Knisely, Milton J Finegold, Donna M Muzny, Eric Boerwinkle, James R Lupski, Sharon E Plon, Richard A Gibbs, Christine M Eng, Yaping Yang, Gabriel C Washington, Matthew H Porteus, William E Berquist, Neeraja Kambham, Ravinder J Singh, Fan Xia, Gregory M Enns, David D Moore

Journal:

 

Neonatal cholestasis is a potentially life-threatening condition requiring prompt diagnosis. Mutations in several different genes can cause progressive familial intrahepatic cholestasis, but known genes cannot account for all familial cases. Here we report four individuals from two ...

Last Updated: 18 Feb 2016

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Successful pregnancy after ileal exclusion in progressive familial intrahepatic cholestasis type 2.
 

Author(s): Piotr Czubkowski, Irena Jankowska, Joanna Pawlowska

Journal: Ann Hepatol. ;14(4):550-2.

 

Progressive familial intrahepatic cholestasis type 2 (PFIC 2) results from mutations in ABCB11 gene coding bile salt export pump (BSEP). Medical treatment is usually unsuccessful and surgery intervention is necessary. Partial external biliary diversion (PEBD) is regarded as the first ...

Last Updated: 28 May 2015

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Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.
 

Author(s): Hao-Zhe Sun, Hong Shi, Shun-Cai Zhang, Xi-Zhong Shen

Journal: World J. Gastroenterol.. 2015 Jan;21(2):699-703.

 

Genotyping is conclusive for the diagnosis of progressive familial intrahepatic cholestasis type 3 (PFIC3). Here we report a Chinese patient of PFIC3 with compound mutations in the ABCB4 gene. Liver biopsy was performed on a 17-year-old male patient with intrahepatic cholestasis of ...

Last Updated: 16 Jan 2015

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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC)
 

Status: Recruiting

Condition Summary: Liver Diseases; Alagille Syndrome; Alpha 1-Antitrypsin Deficiency

 

Last Updated: 15 Apr 2015

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Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases
 

Status: Not yet recruiting

Condition Summary: Hepatobiliary Diseases

 

Last Updated: 15 Oct 2010

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