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Hypertransaminasemia in childhood as a marker of genetic liver disorders

Raffaele Iorio1, Angela Sepe, Antonietta Giannattasio

  • 1Department of Pediatrics, University of Naples "Federico II", Via Sergio Pansini n. 5, 80131, Naples, Italy.

Journal of Gastroenterology
|September 7, 2005
PubMed

Insights

Genetic disorders are a significant cause of persistent hypertransaminasemia in children. Early diagnosis is crucial, as these conditions may present without typical symptoms, highlighting the need for heightened clinical suspicion.

Area of Science:

  • Pediatric Gastroenterology
  • Clinical Biochemistry
  • Genetics

Background:

  • Routine biochemical assays frequently reveal incidental hypertransaminasemia.
  • Elevated aminotransferase levels in children warrant investigation into underlying causes.

Purpose of the Study:

  • To determine the prevalence of various causes of elevated aminotransferase levels in pediatric patients.
  • To evaluate children referred to a pediatric department for isolated hypertransaminasemia.

Main Methods:

  • A cohort of 425 children (aged 1-18 years) with isolated hypertransaminasemia was studied.
  • Patients with raised aminotransferase levels on at least two occasions, excluding major hepatotropic viruses, were included.
  • Follow-up extended to identify persistent hypertransaminasemia.

Main Results:

  • Of 166 children with persistent hypertransaminasemia (>6 months), obesity-related liver disease (75) and genetic disorders (51) were most common.
  • Specific genetic disorders identified included Wilson disease, muscular dystrophy, and alpha-1-antitrypsin deficiency.
  • 22 children had persistent hypertransaminasemia without an identified cause.

Conclusions:

  • Genetic diseases represent 12% of persistent isolated hypertransaminasemia cases in a tertiary pediatric setting.
  • Early diagnosis of genetic disorders presenting with isolated hypertransaminasemia is essential.
  • A high index of suspicion is recommended for diagnosing these conditions, even without classic signs.
Abstract

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