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About 35 results

ALLMedicine™ Adenine Phosphoribosyltransferase Deficiency Center

Research & Reviews  13 results

An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Ade...
https://doi.org/10.1159/000516281
Nephron Nourié N, Nassereddine H et. al.

May 28th, 2021 - Adenine phosphoribosyltransferase (APRT) deficiency is a rare disorder caused by an autosomal recessive genetic disease leading to the deposition of 2,8-dihydroxyadenine (2,8-DHA) in the kidney. The disease remains under-recognized, oftentimes dia...

Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7191925
Journal of the American Society of Nephrology : JASN; Klinkhammer BM, Djudjaj S et. al.

Feb 23rd, 2020 - Hereditary deficiency of adenine phosphoribosyltransferase causes 2,8-dihydroxyadenine (2,8-DHA) nephropathy, a rare condition characterized by formation of 2,8-DHA crystals within renal tubules. Clinical relevance of rodent models of 2,8-DHA crys...

Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316615
Transplantation Runolfsdottir HL, Palsson R et. al.

Dec 28th, 2019 - Adenine phosphoribosyltransferase (APRT) deficiency is a rare, hereditary cause of kidney stones and chronic kidney disease (CKD) which is characterized by 2,8-dihydroxyadenine renal parenchymal crystal deposition. The aim of this study was to exa...

Adenine Phosphoribosyltransferase Deficiency - GeneReviews® - NCBI Bookshelf
https://www.ncbi.nlm.nih.gov/books/n/gene/aprt-def/

Sep 26th, 2019 - Adenine phosphoribosyltransferase (APRT) deficiency is characterized by excessive production and renal excretion of 2,8-dihydroxyadenine (DHA), which leads to kidney stone formation and crystal-induced kidney damage (i.e., DHA crystal nephropathy)...

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Clinicaltrials.gov  1 results

Prospective Research Rare Kidney Stones (ProRKS)
https://clinicaltrials.gov/ct2/show/NCT02780297

Oct 18th, 2018 - Severe, hereditary forms of nephrolithiasis cause marked excretion of insoluble minerals important in stone formation, including primary hyperoxaluria, cystinuria, Dent disease, and adenine phosphoribosyltransferase deficiency (APRTd). Patients wi...

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