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Hepatic porphyrias in children

G H Elder1

  • 1Department of Medical Biochemistry, University of Wales College of Medicine, Heath Park, Cardiff, UK.

Journal of Inherited Metabolic Disease
|June 1, 1997
PubMed
Summary

Hepatic porphyrias are rare in children, with autosomal dominant forms like acute intermittent porphyria (AIP) rarely appearing before puberty. Early identification of asymptomatic children is crucial for family management using genetic testing.

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Clinically overt hepatic porphyria is uncommon in pediatric populations.
  • Autosomal dominant acute hepatic porphyrias (AIP, VP, HCP) typically manifest after puberty.
  • Homozygous variants and specific cutaneous forms (PCT, HEP) can present in early childhood.

Purpose of the Study:

  • To highlight the importance of identifying asymptomatic children with inherited hepatic porphyrias.
  • To discuss the diagnostic approaches for pediatric hepatic porphyrias.
  • To clarify the genetic relationships between different porphyria types.

Main Methods:

  • Review of clinical presentations and genetic inheritance patterns.
  • Discussion of enzymatic and DNA-based diagnostic methods.
  • Analysis of genotype-phenotype correlations.

Main Results:

  • Autosomal dominant acute hepatic porphyrias (AIP, VP, HCP) are rare before puberty.
  • Homozygous variants present in early childhood with variable severity.
  • Porphyria cutanea tarda (PCT) and Hepatoerythropoietic porphyria (HEP) are the main cutaneous hepatic porphyrias seen in children.

Conclusions:

  • Early identification of inherited hepatic porphyrias in children is essential for family management.
  • Genetic analysis is key to diagnosing asymptomatic carriers and understanding disease heterogeneity.
  • Understanding the genetic basis of porphyrias aids in differentiating between acute and cutaneous forms in pediatric patients.

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