{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T11:39:04Z","timestamp":1773315544308,"version":"3.50.1"},"reference-count":4,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Endourology Case Reports"],"published-print":{"date-parts":[[2020,12,1]]},"abstract":"\n Background:<\/jats:title>\n Lesch\u2013Nyhan syndrome results from a rare X-linked inborn error of metabolism leading to a total body accumulation of uric acid. Clinical manifestations include self-mutilating behavior, poor muscle control, intellectual disability, gout, and kidney disease. Unfortunately, life expectancy is limited to the second or third decade of life because of symptoms associated with hyperuricemia, particularly renal failure. Patients with this condition frequently necessitate urologic intervention as the buildup of lithogenic substances predispose individuals to the development of kidney and bladder stones.<\/jats:p>\n <\/jats:sec>\n \n Case Presentation:<\/jats:title>\n We present the case of a 23-year-old white man with known Lesch\u2013Nyhan syndrome and recurrent bilateral xanthine stones despite repeated urologic interventions.<\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n Therapy for Lesch\u2013Nyhan syndrome consists of reduction of uric acid achieved through allopurinol. However, excess allopurinol dosing can lead to development of xanthine kidney and bladder stones. Thus, the treating clinician must maintain a delicate balance between managing hyperuricemia and avoiding xanthine urolithiasis.<\/jats:p>\n <\/jats:sec>","DOI":"10.1089\/cren.2020.0046","type":"journal-article","created":{"date-parts":[[2020,8,6]],"date-time":"2020-08-06T13:03:31Z","timestamp":1596719011000},"page":"268-270","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Recurrent Xanthine Stones in a Young Patient with Lesch\u2013Nyhan Syndrome"],"prefix":"10.1177","volume":"6","author":[{"given":"Margaret F.","family":"Meagher","sequence":"first","affiliation":[{"name":"Department of Urology, UC San Diego School of Medicine, La Jolla, California, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seth K.","family":"Bechis","sequence":"additional","affiliation":[{"name":"Department of Urology, Comprehensive Kidney Stone Center, UC San Diego Health, San Diego, California, USA."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,3,10]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1186\/1750-1172-2-48","article-title":"Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome","volume":"2","author":"Torres RJ","year":"2007","unstructured":"Torres RJ, , Puid JG. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis, 2007; 2:48.","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_3_3_3_2","doi-asserted-by":"crossref","first-page":"1045","DOI":"10.1007\/s00467-006-0149-8","article-title":"Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome","volume":"21","author":"Sikora P","year":"2006","unstructured":"Sikora P, , Pijanowska M, , Majewski M, , Bienias B, , Borzecka H, , Zajczkowska M. Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. Pediatr Nephrol, 2006; 21:1045\u20131047.","journal-title":"Pediatr Nephrol"},{"key":"e_1_3_3_4_2","first-page":"1179","article-title":"Prior, C","volume":"56","author":"Torres RJ","year":"2007","unstructured":"Torres RJ. Prior, C. Puig, J. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. Metabolism, 2007; 56:1179\u20131186.","journal-title":"Puig, J. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. Metabolism"},{"key":"e_1_3_3_5_2","first-page":"105","article-title":"Moro, F","volume":"7","author":"Cameron JS","year":"1993","unstructured":"Cameron JS. Moro, F. Simmonds, HA. Gout, uric acid, and purine metabolism in paediatric nephrology. Pediatr Nephrol, 1993; 7:105\u2013118.","journal-title":"Simmonds, HA. Gout, uric acid, and purine metabolism in paediatric nephrology. Pediatr Nephrol"}],"container-title":["Journal of Endourology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/cren.2020.0046","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/cren.2020.0046","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/cren.2020.0046","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T17:29:08Z","timestamp":1773250148000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/cren.2020.0046"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,1]]},"references-count":4,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,12,1]]}},"alternative-id":["10.1089\/cren.2020.0046"],"URL":"https:\/\/doi.org\/10.1089\/cren.2020.0046","relation":{},"ISSN":["2379-9889","2379-9889"],"issn-type":[{"value":"2379-9889","type":"print"},{"value":"2379-9889","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,1]]}}}