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Kelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist?

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dc.creatorChavarriaga J.spa
dc.creatorOcampo M.spa
dc.creatorFakih N.spa
dc.creatorSilva Herrera J.spa
dc.date.accessioned2020-05-26T00:02:02Z
dc.date.available2020-05-26T00:02:02Z
dc.date.created2019spa
dc.description.abstractKelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting as hyperuricemia, hyperuricosuria, gout arthritis, and urolithiasis. The aim of this article is to present the case of a 33-year-old male with KSS, with left ureteral colic, and a 5-mm, 323-HU ureteral calculi, successfully managed with conservative management. It is critical to recognize that most urologists are not familiar with this inborn metabolic error and 75% of these patients will be affected by urolithiasis, thus making it a very critical and significant disease in our practice. © 2018 S. Karger AG, Basel.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1159/000494360
dc.identifier.issn00421138
dc.identifier.issn14230399
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23441
dc.language.isoengspa
dc.publisherS. Karger AGspa
dc.relation.citationEndPage180
dc.relation.citationIssueNo. 2
dc.relation.citationStartPage175
dc.relation.citationTitleUrologia Internationalis
dc.relation.citationVolumeVol. 102
dc.relation.ispartofUrologia Internationalis, ISSN:00421138, 14230399, Vol.102, No.2 (2019); pp. 175-180spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85056362213&doi=10.1159%2f000494360&partnerID=40&md5=8df83fe23fe4675d9a9369cb110c691aspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordFebuxostatspa
dc.subject.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordCase reportspa
dc.subject.keywordChronic kidney failurespa
dc.subject.keywordClinical articlespa
dc.subject.keywordClinical featurespa
dc.subject.keywordConservative treatmentspa
dc.subject.keywordDrug effectspa
dc.subject.keywordGoutspa
dc.subject.keywordHumanspa
dc.subject.keywordHyperuricemiaspa
dc.subject.keywordHyperuricosuriaspa
dc.subject.keywordKelley seegmiller syndromespa
dc.subject.keywordKidney colicspa
dc.subject.keywordLiquid chromatographyspa
dc.subject.keywordMalespa
dc.subject.keywordMetatarsophalangeal jointspa
dc.subject.keywordPriority journalspa
dc.subject.keywordUrolithiasisspa
dc.subject.keywordUrologistspa
dc.subject.keywordX chromosome linked disorderspa
dc.subject.keywordHprt1 deficiency, partialspa
dc.subject.keywordHypoxanthine guanine phosphoribosyltransferase 1 deficiencyeng
dc.subject.keywordKelley- seegmiller syndromespa
dc.subject.keywordUrolithiasisspa
dc.titleKelley-Seegmiller Syndrome: Urolithiasis, Renal Uric Acid Deposits, and Gout: What is the Role of the Urologist?spa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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