Indian J Gastroenterol. 2006 Jul-Aug;25(4):191-3.

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

Khanna R, Alam S, Sherwani R, Arora S, Arora NK, Malik A.

Source

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

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.

PMID:: 16974034; [PubMed - indexed for MEDLINE]

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