{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T02:20:11Z","timestamp":1699237211812},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,6,17]],"date-time":"2011-06-17T00:00:00Z","timestamp":1308268800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 2\u2010year\u2010old Japanese boy with radiolucent urolithiasis and recurrent urinary tract infection. Urinalysis showed typical 2,8\u2010dihydroxyadenine (2,8\u2010DHA) crystals, leading to a diagnosis as adenine phosphoribosyltransferase (APRT) deficiency. The sensitivity of proliferating T cells to an adenine analogue, whose cytotoxicity is dependent on APRT, showed that he was homozygous or compound heterozygous for the APRT gene mutation. A genetic analysis revealed a compound heterozygous state for M136T and a novel missense mutation L33P, not previously reported in patients with APRT deficiency.<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold> Adenine phosphoribosyltransferase deficiency should be suspected in all patients with radiolucent kidney stones, urinary 2,8\u2010DHA crystals were an important finding for an early diagnosis of APRT deficiency. Appropriate treatment should be initiated to prevent the development of urolithiasis or renal failure in APRT\u2010deficient children. The T cell method was useful to detect a homozygote or a compound heterozygote of the pathogenic allelic gene in APRT deficiency, and a genetic analysis revealed a novel mutation L33P.<\/jats:p>","DOI":"10.1111\/j.1651-2227.2011.02371.x","type":"journal-article","created":{"date-parts":[[2011,6,3]],"date-time":"2011-06-03T08:36:36Z","timestamp":1307090196000},"update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene"],"prefix":"10.1111","volume":"100","author":[{"given":"Hiroki","family":"Nozue","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Kamoda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisako","family":"Saitoh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kunio","family":"Ichikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuo","family":"Taniguchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,6,17]]},"reference":[{"key":"e_1_2_5_2_2","first-page":"2571","volume-title":"The metabolic and molecular bases of inherited disease","author":"Sahota AS","year":"2001"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1053\/ajkd.2001.26826"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2009080808"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00283377"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00484458"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.10.3349"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)42075-1"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115825"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-009-1430-4"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1081\/NCN-200027393"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050677"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi0360758"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(85)90127-1"},{"key":"e_1_2_5_15_2","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1016\/S0022-5347(17)36222-5","article-title":"A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J\/APRT*Q0) leading to 2,8\u2010dihydroxyadenine urolithiasis: review of the reported cases with 2,8\u2010dihydroxyadenine stones in Japan","volume":"149","author":"Takeuchi H","year":"1993","journal-title":"J Urol"}],"container-title":["Acta Paediatrica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1651-2227.2011.02371.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1651-2227.2011.02371.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T00:28:03Z","timestamp":1697416083000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1651-2227.2011.02371.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,17]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1111\/j.1651-2227.2011.02371.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1651-2227.2011.02371.x","archive":["Portico"],"relation":{},"ISSN":["0803-5253","1651-2227"],"issn-type":[{"value":"0803-5253","type":"print"},{"value":"1651-2227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,6,17]]},"assertion":[{"value":"2011-06-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}