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


CONCLUSIONS
AAT deficiency is infrequent among children with CLD and NCS in our region.
Khanna
Rajeev
R
Department of Pediatrics, J.N. Medical College, AMU, Aligarh 202002, India.
Alam
Seema
S
Sherwani
Rana
R
Arora
Shivali
S
Arora
N K
NK
Malik
Ashraf
A
D000410:Alanine Transaminase / Q000097:blood; D002570:Ceruloplasmin / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000150:complications*; D006801:Humans; D007194:India / Q000453:epidemiology; D007231:Infant, Newborn; D008107:Liver Diseases / Q000150:complications*; D010641:Phenotype; D011517:Prothrombin Time; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000453:epidemiology* / Q000235:genetics
D002570:Ceruloplasmin; D000410:Alanine Transaminase