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Progressive familial intrahepatic cholestasis.

Anshu Srivastava1

  • 1Department of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, India.

Journal of Clinical and Experimental Hepatology
|March 11, 2015
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Summary
This summary is machine-generated.

Progressive familial intrahepatic cholestasis (PFIC) comprises rare genetic disorders affecting bile secretion, leading to cholestasis in infants and children. Treatment involves supportive care, medications, and often liver transplantation, with emerging gene therapies on the horizon.

Keywords:
ABC, ATP binding cassetteASBT, apical sodium bile salt transporterATP, adenosine triphosphateATPase, adenosine triphosphataseBRIC, benign recurrent intrahepatic cholestasisBSEP, bile salt exporter proteinCFTR, cystic fibrosis transmembrane conductance regulatorCYP, cytochrome PDNA, deoxyribonucleic acidERAD, endoplasmic reticulum associated degradationESLD, end stage liver diseaseFIC1, familial intrahepatic cholestasis protein 1FXR, farnesoid X receptorHCC, hepatocellular carcinomaIB, ileal bypassICP, intrahepatic cholestasis of pregnancyLT, liver transplantMARS, Molecular Adsorbent Recirculating SystemMDR, multidrug resistance proteinMRCP, magnetic resonance cholangiopancreaticographyPBD, partial biliary drainagePEBD, partial external biliary drainagePFIC, progressive familial intrahepatic cholestasisPIBD, partial internal biliary drainagePPAR, peroxisome proliferator activator receptorUDCA, ursodeoxycholic acidbile secretionchildrencholestasisfamilialmRNA, messenger ribonucleic acidpGp, p-glycoproteinpruritus

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Area of Science:

  • Hepatology and Genetic Medicine

Background:

  • Progressive familial intrahepatic cholestasis (PFIC) represents a group of rare, autosomal recessive disorders characterized by defective bile secretion.
  • These conditions manifest as intrahepatic cholestasis, typically presenting in infancy or childhood, with an estimated incidence of 1 in 50,000 to 100,000 births.

Purpose of the Study:

  • To outline the classification, genetic basis, clinical presentation, and management strategies for PFIC types 1, 2, and 3.
  • To highlight the progressive nature of these diseases and the need for advanced therapeutic interventions.

Main Methods:

  • Classification based on clinical presentation, laboratory findings, liver histology, and specific genetic defects (ATP8B1, ABCB11, ABCB4 genes).
  • Review of current treatment modalities including nutritional support, symptomatic relief, surgical interventions, and liver transplantation.

Main Results:

  • PFIC types 1 and 2 involve impaired bile salt secretion, while PFIC type 3 is linked to reduced biliary phospholipid secretion.
  • Clinical hallmarks include cholestatic jaundice and pruritus; serum gamma-glutamyl transpeptidase (GGT) levels differentiate PFIC types (normal in 1/2, elevated in 3).
  • Most patients progress to end-stage liver disease, necessitating liver transplantation, with PFIC2 patients requiring monitoring for liver tumors.

Conclusions:

  • PFIC necessitates comprehensive management, from supportive care to liver transplantation.
  • Future therapeutic avenues such as mutation-targeted pharmacotherapy, gene therapy, and hepatocyte transplantation offer potential for improved outcomes.