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...

Descripción completa

Detalles Bibliográficos
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
Descripción
Sumario: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.

Ejemplares similares