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Alpha-1 antitrypsin deficiency among Indian children with liver disorders

Rajeev Khanna1, Seema Alam, Rana Sherwani

  • 1Department of Pediatrics, J.N. Medical College, AMU, Aligarh 202002, India.

Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology
|September 16, 2006
PubMed

Insights

Alpha-1 antitrypsin (AAT) deficiency is rare in children with chronic liver disease (CLD) and neonatal cholestasis syndrome (NCS). This study found no cases of the severe PiZZ phenotype in pediatric patients with these conditions.

Area of Science:

  • Pediatric Gastroenterology
  • Hepatology
  • Medical Genetics

Background:

  • Alpha-1 antitrypsin (AAT) deficiency is a genetic disorder that can lead to liver and lung disease.
  • Chronic liver disease (CLD) and neonatal cholestasis syndrome (NCS) are significant pediatric conditions with various underlying causes.

Purpose of the Study:

  • To investigate the prevalence of alpha-1 antitrypsin (AAT) deficiency in pediatric patients diagnosed with chronic liver disease (CLD) or neonatal cholestasis syndrome (NCS).

Main Methods:

  • A cohort of 58 children diagnosed with NCS (n=23) or CLD (n=35) were recruited between November 2003 and July 2005.
  • Plasma samples were analyzed using isoelectric focusing for phenotyping to screen for AAT deficiency.

Main Results:

  • The study screened 58 children for AAT deficiency.
  • The majority (57/58) exhibited the normal PiMM phenotype.
  • One child with CLD presented with the M1E variant; no patients had the abnormal PiZZ phenotype.

Conclusions:

  • Alpha-1 antitrypsin (AAT) deficiency is uncommon in children presenting with chronic liver disease (CLD) or neonatal cholestasis syndrome (NCS) in the studied population.
  • Routine screening for AAT deficiency may not be indicated for all pediatric CLD and NCS cases.
Abstract

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