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Year : 2020  |  Volume : 30  |  Issue : 4  |  Page : 290--292

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

Prashant Rajput, Zaheer A Virani, Bharat V Shah 
 Department of Nephrology, Institute of Renal Sciences, Global Hospital Parel-12, Mumbai, Maharashtra, India

Correspondence Address:
Dr. Bharat V Shah
A-1, Navsayukta Apartment, Behind Jai Mata Di Temple, Guru Hargovindji Road, Chakala, Andheri (East), Mumbai, Maharashtra
India

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.

How to cite this article:
Rajput P, Virani ZA, Shah BV. Crystalline nephropathy due to APRT deficiency: A preventable cause of renal and renal allograft failure.Indian J Nephrol 2020;30:290-292

How to cite this URL:
Rajput P, Virani ZA, Shah BV. Crystalline nephropathy due to APRT deficiency: A preventable cause of renal and renal allograft failure. Indian J Nephrol [serial online] 2020 [cited 2023 Feb 6 ];30:290-292
Available from: https://www.indianjnephrol.org/article.asp?issn=0971-4065;year=2020;volume=30;issue=4;spage=290;epage=292;aulast=Rajput;type=0