Alpha-1 antitrypsin deficiency among Indian children with liver disorders.

ABSTRACT

AIMS: To determine the frequency of alpha-1 antitrypsin (AAT) deficiency in children with chronic liver disease (CLD) and neonatal cholestasis syndrome (NCS). METHODS: All children with NCS (n=23) or CLD (n=35) attending the Pediatric Gastroenterology Clinic between November 2003 and July 2005 were screened for AAT deficiency using phenotyping through isoelectric focusing of plasma. RESULTS: Of the 58 children studied, 57 had normal PiMM phenotype. One child with CLD had the M1E type of normal variant. None of the patients had the abnormal phenotype PiZZ. CONCLUSION: AAT deficiency is infrequent among children with CLD and NCS in our region.