Alpha 1 antitrypsin deficiency in children with chronic liver disease in North India
β Scribed by Narendra K. Arora; Shivali Arora; Anjali Ahuja; Prashant Mathur; Meenu Maheshwari; Manoja K. Das; Vidyut Bhatia; Madhulika Kabra; Rajive Kumar; Mona Anand; Ashok Kumar; Siddarth Datta Gupta; Subbiah Vivekanandan
- Book ID
- 107697650
- Publisher
- Indian Academy of Pediatrics
- Year
- 2010
- Tongue
- English
- Weight
- 140 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0019-6061
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π SIMILAR VOLUMES
We present our experience with 18 pediatric patients with a,-antitrypsin deficiency of the PiZZ phenotype. Fifteen patients (83%) presented with neonatal cholestatic jaundice at a mean age of 2 f 0.6 months (2S.D.). The ma1e:female ratio was 15:3, indicating a male predominance. All metabolic, infec
Liver disease in alpha-1-antitrypsin (alpha1AT) deficiency is caused by a gain-of-toxic function mechanism engendered by the accumulation of a mutant glycoprotein in the endoplasmic reticulum (ER). The extraordinary degree of variation in phenotypical expression of this liver disease is believed to