Alpha 1 Antitrypsin Deficiency in Children with Chronic Liver Disease in North India

作者：Arora Narendra K^*; Arora Shivali; Ahuja Anjali; Mathur Prashant; Maheshwari Meenu; Das Manoja K; Bhatia Vidyut; Kabra Madhulika; Kumar Rajive; Anand Mona; Kumar Ashok; Gupta Siddarth Datta; Vivekanandan Subbiah

来源：Indian Pediatrics, 2010, 47(12): 1015-1023.

DOI：10.1007/s13312-010-0174-3

• Etiology
• Novel mutation
• Phenotyping

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 outcome measures: 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.

• 出版日期2010-12
• 单位河北医科大学