Is adenine phophorybosiltransferase deficiency a still underdiagnosed cause of urolithiasis and chronic renal failure? A report of two cases in a family with an uncommon novel mutation

We describe two patients that had a history of recurrent renal stones and chronic renal insufficiency. The first case was a 51-year-old man with an adenine phophoribosyltransferase (APRT) deficiency who was diagnosed only after he had been referred for severe renal failure requiring hemodialysis. Th...

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Detalles Bibliográficos
Autores principales: Perruzza, Italia, Di Pietro, Valentina, Tavazzi, Barbara, Lazzarino, Giuseppe, Gamberini, Marco, Barsotti, Paola, Amorini, Angela Maria, Giardina, Bruno, Balducci, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421284/
https://www.ncbi.nlm.nih.gov/pubmed/25983915
http://dx.doi.org/10.1093/ndtplus/sfn072

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421284/
https://www.ncbi.nlm.nih.gov/pubmed/25983915
http://dx.doi.org/10.1093/ndtplus/sfn072

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