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CASE REPORT
Year : 2017  |  Volume : 33  |  Issue : 3  |  Page : 246-248

Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report


1 Department of Urology, NU Hospitals, Bengaluru, Karnataka, India
2 Department of Laboratory Medicine, NU Hospitals, Bengaluru, Karnataka, India

Correspondence Address:
Pramod Krishnappa
Department of Urology, NU Hospitals, Bengaluru, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/iju.IJU_419_16

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Adenine phosphoribosyltransferase (APRT) deficiency is a rare autosomal recessive error of purine metabolism resulting in the generation of 2,8-dihydroxyadenine (DHA), a highly insoluble metabolite of adenine, which can cause radiolucent urolithiasis. This is the second case of DHA stone being reported in India and the first case in India to document the mutation of the APRT gene on blood DNA analysis.


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