Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease.

Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease.
Saudi J Kidney Dis Transpl. 2019 May-Jun;30(3):723-725
Authors: Parikh MD, Konnur A, Gang S
Abstract
Adenine phosphoribosyltransferase deficiency is an inherited condition presenting from infancy to late adulthood. The common features are recurrent kidney and urinary tract stones and obstructive symptoms. The stones are characteristically radiolucent. 2, 8-Dihydroxyadenine (2, 8-DHA) formation is blocked by xanthine oxidase blocker allopurinol. Here, we report the case of an eight-month-old baby girl who presented with obstructive acute kidney injury secondary to calculi which was treated with surgical removal of stone. The analysis of the calculi revealed 2, 8-DHA crystals.
PMID: 31249241 [PubMed - in process]

Source: Saudi Journal of Kidney Diseases and Transplantation - April 30, 2019 Category: Urology & Nephrology Authors: Parikh MD, Konnur A, Gang S Tags: Saudi J Kidney Dis Transpl Source Type: research