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

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 tran...

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Bibliographic Details
Main Authors: Prashant Rajput, Zaheer A Virani, Bharat V Shah
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Indian Journal of Nephrology
Subjects:
2
Online Access:http://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2020;volume=30;issue=4;spage=290;epage=292;aulast=Rajput