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Extrahepatic biliary atresia and normal-range serum gamma-glutamyltranspeptidase activity: A case report

Benno Kohlmaier1, Heidelis Tichy2, Jasmin Blatterer2

  • 1Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics Medical University of Graz Graz Austria.

JPGN Reports
|November 29, 2024
PubMed

Insights

This study reports a rare case of biliary atresia with low gamma-glutamyltranspeptidase (GGT) levels, a finding typically associated with poorer outcomes. Further investigation is recommended for similar cases to understand GGT

Area of Science:

  • Pediatric Gastroenterology
  • Hepatology
  • Genetic Medicine

Background:

  • Biliary atresia (BA) is a severe neonatal liver disease.
  • Elevated serum gamma-glutamyltranspeptidase (GGT) is a common biomarker in BA.
  • Low GGT activity in BA is exceptional and linked to worse clinical outcomes.

Purpose of the Study:

  • To describe a unique case of BA with normal-range GGT.
  • To explore potential mechanisms and implications of low-GGT cholestasis in BA.
  • To highlight the need for comprehensive investigations in such cases.

Main Methods:

  • Case report of an infant with biliary atresia and low GGT.
  • Clinical assessment and biomarker analysis.
  • Genetic testing for known cholestasis-associated genes.

Main Results:

  • The patient presented with biliary atresia and normal GGT levels.
  • No pathogenic variants were identified in genes associated with poor prognosis or low-GGT cholestasis.
  • The infant maintained stable disease with unremarkable biomarkers at 14 months.

Conclusions:

  • Low GGT in biliary atresia warrants further investigation beyond standard genetic panels.
  • Understanding the mechanisms of low-GGT cholestasis is crucial for predicting BA prognosis.
  • Extended investigations, including genetic testing, may reveal coexistent disorders and advance knowledge of GGT's role in BA.

Keywords:
gamma‐glutamyl transferaselow GGTnormal GGT

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