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

A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2.
 

Author(s): Orith Waisbourd-Zinman, Lea F Surrey, Anna E Schwartz, Pierre A Russo, Jessica Wen

Journal: Ann Hepatol. ;16(3):465-468.

 

Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2) is a rare cholestatic disorder diagnosed in infancy or childhood that can lead to severe hepatic fibrosis and liver failure. Mutations in the ABCB11 gene result in a deficiency of the bile salt export protein (BSEP) and ...

Last Updated: 20 Apr 2017

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A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
 

Author(s): Anjali Sharma, Ujjal Poddar, Shikha Agnihotry, Rakesh Aggarwal

Journal: Indian Pediatr. 2016 Dec;53(12):1099-1101.

 

Progressive familial intrahepatic cholestasis has been only infrequently reported from India.

Last Updated: 8 Jan 2017

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[Clinical feature and ATP8B1 mutation analysis of a patient with progressive familial intrahepatic cholestasis type I].
 

Author(s): Ying Cheng, Li Guo, Yuan-Zong Song

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2016 Aug;18(8):751-6.

 

Progressive familial intrahepatic cholestasis type I (PFIC1) is an autosomal recessive disorder caused by biallelic mutations of ATP8B1 gene, with progressive cholestasis as the main clinical manifestation. This paper reports the clinical and genetic features of a PFIC1 patient definitely ...

Last Updated: 17 Aug 2016

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

Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease.
 

Author(s): Kavita Gaur, Puja Sakhuja

Journal: Indian J Pathol Microbiol. ;60(1):2-7.

 

Cholestatic liver disease in children represents a diagnostic and therapeutic challenge. The requirement of a multidisciplinary approach, high levels of professional expertise, and the costs of genetic testing are a few of the reasons why such patients may suffer for want of an accurate ...

Last Updated: 14 Feb 2017

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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

Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases
 

Status: Recruiting

Condition Summary: Hepatobiliary Diseases

 

Last Updated: 7 Sep 2017

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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: 6 Sep 2017

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