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Progressive familial intrahepatic cholestasis.

¹Department of Pediatrics and INSERM U 347, Bicêtre Hospital, Le Kremlin Bicêtre, France. emj@kb.inserm.fr

Journal of Gastroenterology and Hepatology

|June 29, 1999

Summary

Progressive familial intrahepatic cholestasis (PFIC) is an inherited liver disease in children. Genetic discoveries now enable specific diagnoses and potential prenatal testing for PFIC, improving patient care.

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Area of Science:

Hepatology
Genetics
Pediatric Gastroenterology

Background:

Progressive familial intrahepatic cholestasis (PFIC), or Byler disease, is a severe inherited childhood liver disorder.
It presents with cholestasis of hepatocellular origin, often leading to liver failure before adolescence.
PFIC exhibits heterogeneity, suggesting different types linked to bile acid secretion or metabolism defects.

Purpose of the Study:

To review recent molecular and genetic findings in PFIC.
To highlight the implications for diagnosis, prenatal testing, and targeted therapies.

Main Methods:

Review of molecular and genetic studies identifying genes responsible for PFIC types.
Analysis of genotype-phenotype correlations in PFIC patients.

Main Results:

Identification of genes linked to PFIC, primarily mutations in hepatocellular transport system genes involved in bile formation.
Demonstration that PFIC is related to defects in bile acid secretion or metabolism.
Establishment of specific diagnostic tools and potential for prenatal diagnosis.

Conclusions:

Genetic findings provide precise diagnostic tools for PFIC.
Genotype-phenotype correlations aid in identifying patients who may benefit from ursodeoxycholic acid or biliary diversion.
Future therapies like cell and gene therapies offer alternatives to liver transplantation.

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