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Isolation of Neonatal Extrahepatic Cholangiocytes
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Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child

Ira Shah1, Sujeet Chilkar1

  • 1Pediatric Liver Clinic, Department of Pediatrics, B. J. Wadia Hospital for Children, Mumbai, India.

Journal of Pediatric Genetics
|May 13, 2017
PubMed

Insights

Progressive familial intrahepatic cholestasis type 2 (PFIC-2) is a serious infant liver disease. An Indian child with PFIC-2 died from bleeding after biliary diversion surgery.

Area of Science:

  • Hepatology
  • Genetics
  • Pediatric Gastroenterology

Background:

  • Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic disorders affecting bile flow.
  • PFIC presents in infancy, often leading to cirrhosis within the first decade.
  • Three main types are known: PFIC-1 (ATP8B1 gene), PFIC-2 (ABCB11 gene), and PFIC-3 (ABCB4 gene).

Observation:

  • This report details an Indian child diagnosed with PFIC-2 based on genetic mutation analysis.
  • The child presented with symptoms indicative of progressive liver disease.
  • Mutation analysis pointed towards a defect in the ABCB11 gene, characteristic of PFIC-2.

Findings:

  • The patient underwent a biliary diversion procedure at 3.5 years of age.
  • Despite surgical intervention, the child experienced massive hematemesis (vomiting blood).
  • The ultimate cause of death was attributed to complications arising from the gastrointestinal bleeding.

Implications:

  • This case highlights the severe progression and potential complications of PFIC-2, even after surgical management.
  • It underscores the critical need for early diagnosis and potentially novel therapeutic strategies for PFIC.
  • Understanding the genetic basis and clinical course of PFIC-2 is crucial for improving patient outcomes.

Keywords:
low-GGT PFICneonatal cholestasisprogressive familial intrahepatic cholestasisprogressive familial intrahepatic cholestasis type 2γ-glutamyl transferase

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