Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report

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 repor...

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Autores principales: Krishnappa, Pramod, Krishnamoorthy, Venkatesh, Gowda, Kiran Krishne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508439/
https://www.ncbi.nlm.nih.gov/pubmed/28717278
http://dx.doi.org/10.4103/iju.IJU_419_16
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author Krishnappa, Pramod
Krishnamoorthy, Venkatesh
Gowda, Kiran Krishne
author_facet Krishnappa, Pramod
Krishnamoorthy, Venkatesh
Gowda, Kiran Krishne
author_sort Krishnappa, Pramod
collection PubMed
description 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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spelling pubmed-55084392017-07-17 Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report Krishnappa, Pramod Krishnamoorthy, Venkatesh Gowda, Kiran Krishne Indian J Urol Case Report 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. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5508439/ /pubmed/28717278 http://dx.doi.org/10.4103/iju.IJU_419_16 Text en Copyright: © 2017 Indian Journal of Urology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Krishnappa, Pramod
Krishnamoorthy, Venkatesh
Gowda, Kiran Krishne
Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
title Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
title_full Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
title_fullStr Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
title_full_unstemmed Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
title_short Dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: A case report
title_sort dihydroxyadenine stone with adenine phosphoribosyltransferase deficiency: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508439/
https://www.ncbi.nlm.nih.gov/pubmed/28717278
http://dx.doi.org/10.4103/iju.IJU_419_16
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