Alpha 1 Antitrypsin Deficiency in Children with Chronic Liver Disease in North India.
Indian Pediatr
;
2010 Dec; 47(12): 1015-1023
Article
in English
| IMSEAR
| ID: sea-168722
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.Design:
This study investigated 1700 children (682 retrospectively and 1018 prospectively) (840 CLD, 410 neonatal cholestasis and 450 without liver disease) for AAT deficiency.Setting:
Tertiary referral center, All India Institute of Medical Sciences, New Delhi. Patients 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). Main outcomemeasures:
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.Conclusion:
In conclusion, AAT deficiency as an etiologic factor for chronic liver disease in childhood appeared to be uncommon in North India.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Language:
English
Journal:
Indian Pediatr
Year:
2010
Type:
Article
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