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Published on: February 10, 2015
[Progress in the treatment of progressive familial intrahepatic cholestasis]
1The Department of Infection Diseases, Children's Hospital of Fudan University, Shanghai 201102, China.
Insights
Progressive familial intrahepatic cholestasis (PFIC) classification is evolving due to new types. Experts suggest gene/protein defect naming for better understanding and management of this pediatric liver disease.
Area of Science:
- Hepatology
- Genetics
- Pediatric Gastroenterology
Background:
- Progressive familial intrahepatic cholestasis (PFIC) is a significant cause of pediatric liver disease, often leading to liver transplantation.
- The expanding spectrum of PFIC, with twelve types in the OMIM database, presents classification challenges.
- Inconsistencies in PFIC numbering necessitate a revised classification system.
Purpose of the Study:
- To address the confusing numbering classification of Progressive familial intrahepatic cholestasis (PFIC).
- To recommend a standardized naming convention for PFIC types based on gene/protein defects.
- To highlight advancements in PFIC management and treatment.
Main Methods:
- Review of current PFIC classification systems and OMIM database entries.
- Analysis of expert recommendations for PFIC nomenclature.
- Evaluation of recent therapeutic advancements and their impact on patient outcomes.
Main Results:
- The current numbering system for PFIC types is confusing and inconsistent.
- Expert consensus recommends naming PFIC types by their underlying gene/protein defect, except for types 1-3.
- Clarification of genotype-phenotype relationships has improved PFIC patient management.
Conclusions:
- A shift towards gene/protein defect-based nomenclature for PFIC is recommended for clarity.
- New therapeutic options, including bile acid transporter inhibitors (odevixibat, maralixibat), have been approved.
- Personalized medicine and gene therapy offer promising future directions for PFIC treatment.
Abstract:
Progressive familial intrahepatic cholestasis (PFIC) is an important cause of liver-related death or transplantation in children. The PFIC spectrum is expanding, twelve types of PFIC are currently included in the Online Mendelian Inheritance in Man (OMIM) database. With the increase of PFIC types and the inconsistence of certain types in numbering, the current numbering classification of PFIC is confusing, so the experts in the field recommend using the corresponding mutant gene/ protein defect to name different type of PFIC except for PFIC type 1-3. The clarification of the genotype-phenotype relationship and/or the establishment of phenotypic predictors significantly improved the management of patients with PFIC. Odevixibat and maralixibat, inhibitors of the apical sodium ion-dependent bile acid transporter on the intestinal epithelial cells, were approved in European Union and the United States for the treatment of PFIC pruritus in 2021, expanding the treatment options for PFIC. Additionally, personalized treatments for specific mutations and novel gene therapy is promising.
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