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Alpha 1 antitrypsin deficiency in children with chronic liver disease in North India

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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 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

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Authors and Affiliations

  1. International Clinical Epidemiology Network (INCLEN), All India Institute of Medical Sciences (AIIMS), Delhi, India

    Narendra K. Arora, Meenu Maheshwari & Manoja K. Das

  2. Division of Pediatric Gastroenterology, Hepatology and Nutrition, All India Institute of Medical Sciences (AIIMS), Delhi, India

    Narendra K. Arora, Shivali Arora, Anjali Ahuja, Prashant Mathur, Meenu Maheshwari, Manoja K. Das & Vidyut Bhatia

  3. Indian Council of Medical Research, Institute Rotary Cancer Hospital, Delhi, India

    Prashant Mathur

  4. Division of Genetics, Department of Pediatrics, Institute Rotary Cancer Hospital, Delhi, India

    Madhulika Kabra

  5. Oncology laboratory, Institute Rotary Cancer Hospital, Delhi, India

    Rajive Kumar & Mona Anand

  6. Department of Medicine, AIIMS, Delhi, India

    Ashok Kumar

  7. Patholgy, AIIMS, Delhi, India

    Siddarth Datta Gupta

  8. Neuro-Biochemistry, AIIMS, Delhi, India

    Subbiah Vivekanandan

  9. The INCLEN Trust International, F-1/5, Okhla Industrial Area, Phase I, New Delhi, 110 020, India

    Narendra K. Arora

Authors
  1. Narendra K. Arora
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  2. Shivali Arora
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  8. Madhulika Kabra
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  9. Rajive Kumar
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  10. Mona Anand
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  11. Ashok Kumar
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  12. Siddarth Datta Gupta
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  13. Subbiah Vivekanandan
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Corresponding author

Correspondence to Narendra K. Arora.

Additional information

Financial support through Department of Biotechnology, Government of India, Grant no. BT/PR2278/Med/13/081/2000

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Arora, N.K., Arora, S., Ahuja, A. et al. Alpha 1 antitrypsin deficiency in children with chronic liver disease in North India. Indian Pediatr 47, 1015–1023 (2010). https://doi.org/10.1007/s13312-010-0174-3

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  • DOI: https://doi.org/10.1007/s13312-010-0174-3

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