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Alpha-1-Antitrypsin Deficiency in Children-Unmet Needs Concerning the Liver Manifestation

Joelle Lemke1, Alexander Weigert1, Soyhan Bagci1,2

  • 1Department of Pediatric Gastroenterology and Hepatology, University Hospital of Bonn Children's Hospital, 53127 Bonn, Germany.

Children (Basel, Switzerland)
|June 27, 2024
PubMed

Insights

Neonatal icterus prolongatus in infants with alpha-1-antitrypsin deficiency (AATD) is a significant predictor of severe liver disease. Early identification of this symptom can help anticipate poor outcomes in children with AATD.

Area of Science:

  • Pediatric Hepatology
  • Genetic Liver Diseases
  • Clinical Genetics

Background:

  • Alpha-1-antitrypsin deficiency (AATD) is an inherited disorder that can lead to severe liver and lung disease.
  • Identifying predictors of poor outcomes in pediatric AATD is crucial for timely intervention.

Purpose of the Study:

  • To analyze the clinical course of 45 children with severe alpha-1-antitrypsin deficiency (AATD).
  • To identify potential predictors of poor outcomes in pediatric AATD.

Main Methods:

  • Retrospective and prospective analysis of clinical and biological data from 45 children with homozygous or compound heterozygous AATD.
  • Data collection included questionnaires, laboratory values, sonography, and biopsy findings.
  • Liver disease severity was classified into four grades.

Main Results:

  • Most patients (86.7%) had Pi*ZZ genotype; one had a novel compound heterozygous genotype.
  • 66.7% had mild/no liver disease, 20% moderate, and 13.3% severe.
  • Neonatal icterus prolongatus was significantly associated with severe liver disease (p=0.012).

Conclusions:

  • Neonatal icterus prolongatus is a key early indicator of severe liver disease in pediatric AATD.
  • Further research is needed to explore the link between atopic comorbidity and AATD.
Abstract

Keywords:
alpha-1-antitrypsin deficiencychildrenicterus prolongatusliver diseasepredictors of poor outcome

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