{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T15:23:32Z","timestamp":1765380212676,"version":"3.40.5"},"reference-count":9,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>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 diagnosed in late stages of renal insufficiency or a failed kidney allograft with biopsy-proven disease recurrence. Here, we present the case of a 59-year-old middle eastern male patient diagnosed with 2,8-DHA nephropathy after a very unusual presentation, and we show how the initiation of an appropriate therapy slowed down his evolution toward kidney replacement therapies. His disease was found to be secondary to a specific APRT gene variant c.188G&amp;#x3e;A p (Gly63Asp) also described in 4 other patients, all from middle eastern origins. <\/jats:p>","DOI":"10.1159\/000516281","type":"journal-article","created":{"date-parts":[[2021,5,27]],"date-time":"2021-05-27T21:01:04Z","timestamp":1622149264000},"page":"503-507","source":"Crossref","is-referenced-by-count":3,"title":["An Unusual Course of a 2,8-Dihydroxyadeninuria Crystalline Nephropathy Secondary to Adenine Phosphoribosyltransferase Deficiency"],"prefix":"10.1159","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0891-5611","authenticated-orcid":false,"given":"Nicole","family":"Nouri\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hussein","family":"Nassereddine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiba","family":"Azar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2021,5,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.02320312"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2019.04.021"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1097\/TP.0000000000003088"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp711"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105913"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2015.10.023"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejim.2017.10.007"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2009080808"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013090960"}],"container-title":["Nephron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/516281","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/516281","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:43:11Z","timestamp":1745426591000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000516281"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":9,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,9,16]]},"published-print":{"date-parts":[[2021,9,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000516281","archive":["Portico"],"relation":{},"ISSN":["1660-8151","2235-3186"],"issn-type":[{"type":"print","value":"1660-8151"},{"type":"electronic","value":"2235-3186"}],"subject":[],"published":{"date-parts":[[2021]]}}}