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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Detaylı Bibliyografya
Yayımlandı:Indian J Nephrol
Asıl Yazarlar: Rajput, Prashant, Virani, Zaheer A., Shah, Bharat V.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer - Medknow 2020
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7699657/
https://ncbi.nlm.nih.gov/pubmed/33273797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijn.IJN_106_19
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