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Alpha 1 antitrypsin deficiency in children with chronic liver disease in North India

Narendra K Arora1, Shivali Arora, Anjali Ahuja

  • 1International Clinical Epidemiology Network (INCLEN), Division of Pediatric Gastroenterology, Hepatology and Nutrition, All India Institute of Medical Sciences, New Delhi 110 020, India. nkarora@inclentrust.org

Indian Pediatrics
|May 11, 2010
PubMed

Insights

Alpha-1-antitrypsin (AAT) deficiency variants are uncommon causes of chronic liver disease in North Indian children. A novel AAT mutation was identified in two siblings with liver disease.

Area of Science:

  • Genetics
  • Hepatology
  • Pediatrics

Background:

  • Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that can lead to liver disease.
  • The prevalence of AAT deficiency as a cause of chronic liver disease in North Indian children is not well-established.

Purpose of the Study:

  • To determine the role of alpha-1-antitrypsin (AAT) deficient variants in causing chronic liver disease among North Indian children.
  • To investigate the genetic basis of AAT deficiency in pediatric liver disease patients.

Main Methods:

  • A study of 1700 children, including 840 with chronic liver disease (CLD), 410 with neonatal cholestasis, and 450 controls, was conducted.
  • Screening tests for AAT deficiency included low serum AAT levels, absent/faint alpha-1-globulin band, and PAS-positive granules on liver biopsy.
  • Genetic analysis (PCR-RFLP, SSCP, sequencing) was performed on suspected cases to identify AAT deficient Z or S alleles and novel mutations.

Main Results:

  • No Z or S alleles of AAT deficiency were found in any of the 1700 subjects.
  • A novel mutation (G-to-A at position 333 in exon V) was identified in two siblings with significant liver disease and portal hypertension.
  • These siblings showed positive immunohistochemistry for AAT on liver biopsy.

Conclusions:

  • Alpha-1-antitrypsin deficiency is an uncommon etiological factor for chronic liver disease in childhood in North India.
  • A novel AAT mutation may contribute to liver disease in specific pediatric cases.
Abstract

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