{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T19:11:12Z","timestamp":1789153872564,"version":"build-2803163510"},"reference-count":27,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2018,6,6]],"date-time":"2018-06-06T00:00:00Z","timestamp":1528243200000},"content-version":"vor","delay-in-days":5,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008061","name":"Fundaci\u00f3n Mutua Madrile\u00f1a","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008061","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J of Rheum Dis"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Patients with deficient hypoxanthine\u2010guanine phosphoribosyltransferase (<jats:styled-content style=\"fixed-case\">HPRT<\/jats:styled-content>) activity present hyperuricemia and\/or hyperuricosuria, with a variable degree of neurological manifestations. Hyperuricemia in <jats:styled-content style=\"fixed-case\">HPRT<\/jats:styled-content> deficiency is due to uric acid overproduction and is frequently treated with allopurinol. Renal uric acid excretion is sharply increased in these patients. In recent years, several renal tubular urate transporter single nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s), including those of the <jats:italic><jats:styled-content style=\"fixed-case\">GLUT<\/jats:styled-content>9<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>2<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">URAT<\/jats:styled-content>1<\/jats:italic> genes, have been described that influence the renal handling of uric acid and modulate serum urate levels. In the present study, we analyzed whether <jats:italic><jats:styled-content style=\"fixed-case\">GLUT<\/jats:styled-content>9<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>2<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">URAT<\/jats:styled-content>1<\/jats:italic> gene <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s are able to influence uric acid levels and allopurinol response in patients with <jats:styled-content style=\"fixed-case\">HPRT<\/jats:styled-content> deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Three <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s, <jats:italic><jats:styled-content style=\"fixed-case\">URAT<\/jats:styled-content>1 rs11231825<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">GLUT<\/jats:styled-content>9 rs16890979<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>2 rs2231142<\/jats:italic>, previously associated in our population with hyperuricemia and gout, were analyzed in 27 patients with <jats:styled-content style=\"fixed-case\">HPRT<\/jats:styled-content> deficiency treated with allopurinol for at least 5\u00a0years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients with <jats:styled-content style=\"fixed-case\">HPRT<\/jats:styled-content> deficiency having allele A of <jats:italic>rs16890979<\/jats:italic> in the <jats:italic><jats:styled-content style=\"fixed-case\">GLUT<\/jats:styled-content>9<\/jats:italic> gene present with a lower serum urate concentration at diagnosis, before allopurinol treatment is instituted, and need lower allopurinol doses to maintain serum urate levels between 268 and 446\u00a0\u03bcmol\/L (4.5 and 7.5\u00a0mg\/<jats:styled-content style=\"fixed-case\">dL<\/jats:styled-content>). No relationship between <jats:italic>rs2231142<\/jats:italic> in the <jats:italic><jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>2<\/jats:italic> gene or <jats:italic>rs11231825<\/jats:italic> in the <jats:italic><jats:styled-content style=\"fixed-case\">URAT<\/jats:styled-content>1<\/jats:italic> gene and serum urate levels or allopurinol response was found in our patients with <jats:styled-content style=\"fixed-case\">HPRT<\/jats:styled-content> deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">GLUT<\/jats:styled-content>9 <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s influence the renal handling of uric acid and modulate serum urate levels and the response to treatment in patients with uric acid overproduction due to <jats:styled-content style=\"fixed-case\">HPRT<\/jats:styled-content> deficiency.<\/jats:p><\/jats:sec>","DOI":"10.1111\/1756-185x.13323","type":"journal-article","created":{"date-parts":[[2018,6,7]],"date-time":"2018-06-07T16:29:46Z","timestamp":1528388986000},"page":"1270-1276","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["<scp>GLUT<\/scp>9 influences uric acid concentration in patients with Lesch\u2010Nyhan disease"],"prefix":"10.1111","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4438-8900","authenticated-orcid":false,"given":"Rosa J.","family":"Torres","sequence":"first","affiliation":[{"name":"La Paz University Hospital Health Research Institute (FIBHULP), IdiPaz Madrid Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) ISCIII Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan G.","family":"Puig","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Metabolic\u2010Vascular 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