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:728

Official publication of the Indian Society of Nephrology
 
CASE REPORT
Ahead of Print

Crystalline nephropathy due to APRT deficiency: A preventable cause of renal and renal allograft failure


 Department of Nephrology, Institute of Renal Sciences, Global Hospital Parel-12, Mumbai, Maharashtra, India

Correspondence Address:
Bharat V Shah,
A-1, Navsayukta Apartment, Behind Jai Mata Di Temple, Guru Hargovindji Road, Chakala, Andheri (East), Mumbai, Maharashtra
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijn.IJN_106_19

Adenine phosphororibosyl transferase (APRT) deficiency, a rare inborn error of metabolism is inherited as an autosomal recessive trait. It presents with 2,8-dihydroxyadenine (2,8-DHA) crystal nephropathy and recurrent nephrolithiasis and often progresses to end stage renal disease (ESRD). After transplant, it can recur in the allograft. If APRT deficiency is recognized early, renal failure can be prevented, arrested or reversed in native kidney and in allograft by treatment with allopurinol, which inhibits xanthine oxidase and reduces 2,8-DHA formation. We report two cases of APRT deficiency from our center. DNA sequencing of APRT gene performed in one of the cases revealed a pathogenic variant in Exon1 of APRT gene (c.3G>C; p.Met1). This variant affects the translation initiation codon and results in a start loss. The variant has previously been reported in two cases with APRT deficiency.


Print this article
Search
 Back
 
  Search Pubmed for
 
    -  Rajput P
    -  Virani ZA
    -  Shah BV
 Citation Manager
 Article Access Statistics
 Reader Comments
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed141    
    PDF Downloaded13    

Recommend this journal

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