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Crystalline Nephropathy due to APRT Deficiency: A Preventable Cause of Renal and Renal Allograft Failure

Adenine phosphororibosyl transferase (APRT) deficiency, a rare inborn error of metabolism is inherited as an autosomal recessive trait. It presents with 2,8-dihydroxyadenine (2,8-DHA) crystal nephropathy and recurrent nephrolithiasis and often progresses to end stage renal disease (ESRD). After tran...

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Detalles Bibliográficos
Autores principales:	Rajput, Prashant, Virani, Zaheer A., Shah, Bharat V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7699657/ https://www.ncbi.nlm.nih.gov/pubmed/33273797 http://dx.doi.org/10.4103/ijn.IJN_106_19

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