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...

Descripción completa

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

Internet

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

Ejemplares similares