Advertisment
Indian Journal of Nephrology About us |  Subscription |  e-Alerts  | Feedback | Login   
  Print this page Email this page   Small font sizeDefault font sizeIncrease font size
 Home | Current Issue | Archives| Ahead of print | Search |Instructions |  Editorial Board  

Users Online:356

Official publication of the Indian Society of Nephrology
 ~   Next article
 ~   Previous article
 ~   Table of Contents

 ~   Similar in PUBMED
 ~  Search Pubmed for
 ~  Search in Google Scholar for
 ~Related articles
 ~   Citation Manager
 ~   Access Statistics
 ~   Reader Comments
 ~   Email Alert *
 ~   Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed1128    
    Printed58    
    Emailed0    
    PDF Downloaded86    
    Comments [Add]    
    Cited by others 1    

Recommend this journal

 

 CASE REPORT
Year : 2012  |  Volume : 22  |  Issue : 6  |  Page : 459-461

Common mutation underlying primary hyperoxaluria type1 in three Indian children


1 Department of Pediatrics, Division of Nephrology, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
2 Manav Medical Centre, New Delhi, India

Correspondence Address:
A Sinha
Senior Research Associate, Division of Nephrology, Department of Pediatrics, Teaching Block, All India Institute of Medical Sciences, Ansari Nagar, NewDelhi-110029
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-4065.106044

Rights and Permissions

Primary hyperoxaluria is an autosomal recessive disorder caused by deficiency of alanine-glyoxylate aminotransferase, which is encoded by the AGXT gene. We report three Indian children with primary hyperoxaluria type1 having a common mutation in this gene. All patients had evidence of chronic kidney disease at the time of diagnosis, with subsequent progression to end-stage renal disease. The detection of an identical mutation in the AGXT gene suggests that specific genetic screening for this mutation may be useful when considering the diagnosis of primary hyperoxaluria type1.






[FULL TEXT] [PDF]*


        
Print this article     Email this article

Indian Journal of Nephrology
Published by Wolters Kluwer - Medknow
Online since 20th Sept '07