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