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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2019  |  Volume : 30  |  Issue : 3  |  Page : 723-725
Adenine phosphoribosyltransferase deficiency and 2, 8-dihydroxyadenine renal stones: A preventable cause of pediatric renal stones and kidney disease


Department of Nephrology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat, India

Correspondence Address:
Mital Dipakkkumar Parikh
Department of Nephrology, Muljibhai Patel Urological Hospital, Nadiad, Gujarat
India
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DOI: 10.4103/1319-2442.261357

PMID: 31249241

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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.


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