title: Alpha 1 antitrypsin deficiency in children with chronic liver disease in North India.
abstract: OBJECTIVE
  We attempted to determine the role of alpha-1-antitrypsin (AAT) deficient variants as an etiologic factor for chronic liver disease in North Indian children.
  
  
  METHODS
  This study investigated 1700 children (682 retrospectively and 1018 prospectively) (840 CLD, 410 neonatal cholestasis and 450 without liver disease) for AAT deficiency.
  
  
  METHODS
  Tertiary referral center, All India Institute of Medical Sciences, New Delhi.
  
  
  METHODS
  Of 1250 liver disease patients, 98 (7.8%) were suspected to be AAT deficient on the basis of screening tests (low serum AAT levels and/or absent/faint alpha-1-globulin band on serum agarose electrophoresis and/or diastase resistant PAS positive granules on liver biopsy).
  
  
  METHODS
  AAT deficient Z or S allele in suspected patients.
  
  
  RESULTS
  Z or S allele was not observed on phenotyping (1700 subjects), or with PCR-RFLP, SSCP and sequencing done in 50 of 98 suspected AAT deficient patients. A novel mutation G-to-A at position 333 in exon V was found in two siblings having positive immunohistochemistry for AAT on liver biopsy, both of whom had significant liver disease with portal hypertension.
  
  
  CONCLUSIONS
  In conclusion, AAT deficiency as an etiologic factor for chronic liver disease in childhood appeared to be uncommon in North India.
authors.affiliation: International 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
authors.forename: Narendra K
authors.initials: NK
authors.lastname: Arora
authors.forename: Shivali
authors.initials: S
authors.lastname: Arora
authors.forename: Anjali
authors.initials: A
authors.lastname: Ahuja
authors.forename: Prashant
authors.initials: P
authors.lastname: Mathur
authors.forename: Meenu
authors.initials: M
authors.lastname: Maheshwari
authors.forename: Manoja K
authors.initials: MK
authors.lastname: Das
authors.forename: Vidyut
authors.initials: V
authors.lastname: Bhatia
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Rajive
authors.initials: R
authors.lastname: Kumar
authors.forename: Mona
authors.initials: M
authors.lastname: Anand
authors.forename: Ashok
authors.initials: A
authors.lastname: Kumar
authors.forename: Siddarth Datta
authors.initials: SD
authors.lastname: Gupta
authors.forename: Subbiah
authors.initials: S
authors.lastname: Vivekanandan
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000097:blood / Q000453:epidemiology / Q000235:genetics; D002908:Chronic Disease; D005260:Female; D006801:Humans; D007194:India / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D008107:Liver Diseases / Q000097:blood / Q000453:epidemiology* / Q000235:genetics; D008297:Male; D011446:Prospective Studies; D012189:Retrospective Studies; D000515:alpha 1-Antitrypsin / Q000097:blood / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency / Q000097:blood / Q000453:epidemiology* / Q000235:genetics
chemical_list: D000515:alpha 1-Antitrypsin