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Progressive Familial Intrahepatic Cholestasis Type 2 in an Infant: Diagnostic Challenges and Multidisciplinary

Najeeb Ullah1, Somaan Anthony2, Arzoo Siddiqi3

  • 1Internal Medicine, Rehman Medical Institute, Peshawar, PAK.

Cureus
|January 27, 2025
PubMed

Insights

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare infant liver disease. Genetic testing confirmed ABCB11 mutations, guiding management and liver transplant planning.

Area of Science:

  • Pediatric Hepatology
  • Medical Genetics
  • Rare Disease Research

Background:

  • Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe genetic cholestatic liver disease presenting in infancy.
  • Early diagnosis is critical for managing progressive liver dysfunction and improving outcomes.

Observation:

  • A 3-month-old infant presented with jaundice, vomiting, and bloody stools, exhibiting signs of significant liver dysfunction.
  • Diagnostic workup included abdominal ultrasound (hepatomegaly, coarse texture) and HIDA scan (ruled out biliary atresia).

Findings:

  • Genetic testing identified an ABCB11 gene mutation, confirming the diagnosis of PFIC2.
  • The infant required total parenteral nutrition, ursodeoxycholic acid, and rifampicin for supportive care.

Implications:

  • This case highlights the diagnostic challenges and the importance of early genetic confirmation in PFIC2.
  • A multidisciplinary approach and timely liver transplantation are crucial for managing severe pediatric cholestatic liver disease.

Keywords:
abcb11 mutationcholestasisliver transplantationpediatric liver diseasepfic2progressive familial intrahepatic cholestasis

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