Kelley-seegmiller syndrome: urolithiasis, renal uric acid deposits, and gout: What is the role of the urologist?

Kelley-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 ai...

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Autores:
Chavarriaga, Julian
Ocampo Navia, María Isabel
Fakih, Nayib
Silva Herrera, José Miguel
Tipo de recurso:
Article of journal
Fecha de publicación:
2018
Institución:
Pontificia Universidad Javeriana
Repositorio:
Repositorio Universidad Javeriana
Idioma:
eng
OAI Identifier:
oai:repository.javeriana.edu.co:10554/60019
Acceso en línea:
https://www.karger.com/Article/Abstract/494360
http://hdl.handle.net/10554/60019
https://doi.org/10.1159/000494360
Palabra clave:
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
Hprt1 Deficiency, Partial
Kelley-Seegmiller Syndrome
Urolithiasis
Rights
License
Atribución-NoComercial 4.0 Internacional
id JAVERIANA2_a28f73052bbe1280330a7a37be84538a
oai_identifier_str oai:repository.javeriana.edu.co:10554/60019
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network_name_str Repositorio Universidad Javeriana
repository_id_str
spelling Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Chavarriaga, JulianOcampo Navia, María IsabelFakih, NayibSilva Herrera, José MiguelPontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. UrologíaPontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San IgnacioSilva Herrera, Jose Miguel2022-05-31T17:11:26Z2022-05-31T17:11:26Z2018-11-01https://www.karger.com/Article/Abstract/4943600042-1138 / 1423-0399 (Electrónico)http://hdl.handle.net/10554/60019https://doi.org/10.1159/000494360instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coKelley-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.Q4Q2Pacientes con Síndrome de Kelley-Seegmillerhttps://orcid.org/0000-0003-0363-5485https://orcid.org/0000-0002-2226-8871https://orcid.org/0000-0001-5749-6340Revista Internacional - IndexadaA2NoPDFapplication/pdfengHypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, PartialHprt1 Deficiency, PartialKelley-Seegmiller SyndromeUrolithiasisKelley-seegmiller syndrome: urolithiasis, renal uric acid deposits, and gout: What is the role of the urologist?Reporte de casohttp://purl.org/coar/resource_type/c_6501233237Urologia Internationalis1022ORIGINALa2487.pdfapplication/pdf530808http://repository.javeriana.edu.co/bitstream/10554/60019/1/a2487.pdfbb1cdb9d5c4d1eff86d11d6b49c53232MD51open accessTHUMBNAILa2487.pdf.jpga2487.pdf.jpgIM Thumbnailimage/jpeg8245http://repository.javeriana.edu.co/bitstream/10554/60019/2/a2487.pdf.jpg2be1fe852dbf383ff7898a34a827660bMD52open access10554/60019oai:repository.javeriana.edu.co:10554/600192023-05-10 19:48:11.507Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.co
dc.title.none.fl_str_mv Kelley-seegmiller syndrome: urolithiasis, renal uric acid deposits, and gout: What is the role of the urologist?
title Kelley-seegmiller syndrome: urolithiasis, renal uric acid deposits, and gout: What is the role of the urologist?
spellingShingle Kelley-seegmiller syndrome: urolithiasis, renal uric acid deposits, and gout: What is the role of the urologist?
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
Hprt1 Deficiency, Partial
Kelley-Seegmiller Syndrome
Urolithiasis
title_short Kelley-seegmiller syndrome: urolithiasis, renal uric acid deposits, and gout: What is the role of the urologist?
title_full Kelley-seegmiller syndrome: urolithiasis, renal uric acid deposits, and gout: What is the role of the urologist?
title_fullStr Kelley-seegmiller syndrome: urolithiasis, renal uric acid deposits, and gout: What is the role of the urologist?
title_full_unstemmed Kelley-seegmiller syndrome: urolithiasis, renal uric acid deposits, and gout: What is the role of the urologist?
title_sort Kelley-seegmiller syndrome: urolithiasis, renal uric acid deposits, and gout: What is the role of the urologist?
dc.creator.fl_str_mv Chavarriaga, Julian
Ocampo Navia, María Isabel
Fakih, Nayib
Silva Herrera, José Miguel
dc.contributor.author.none.fl_str_mv Chavarriaga, Julian
Ocampo Navia, María Isabel
Fakih, Nayib
Silva Herrera, José Miguel
dc.contributor.corporatename.spa.fl_str_mv Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología
Pontificia Universidad Javeriana. Facultad de Medicina. Hospital Universitario San Ignacio
dc.contributor.javerianateacher.none.fl_str_mv Silva Herrera, Jose Miguel
dc.subject.spa.fl_str_mv Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
Hprt1 Deficiency, Partial
Kelley-Seegmiller Syndrome
Urolithiasis
topic Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
Hprt1 Deficiency, Partial
Kelley-Seegmiller Syndrome
Urolithiasis
description Kelley-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.
publishDate 2018
dc.date.created.none.fl_str_mv 2018-11-01
dc.date.accessioned.none.fl_str_mv 2022-05-31T17:11:26Z
dc.date.available.none.fl_str_mv 2022-05-31T17:11:26Z
dc.type.local.spa.fl_str_mv Reporte de caso
dc.type.coar.spa.fl_str_mv http://purl.org/coar/resource_type/c_6501
format http://purl.org/coar/resource_type/c_6501
dc.identifier.spa.fl_str_mv https://www.karger.com/Article/Abstract/494360
dc.identifier.issn.spa.fl_str_mv 0042-1138 / 1423-0399 (Electrónico)
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10554/60019
dc.identifier.doi.spa.fl_str_mv https://doi.org/10.1159/000494360
dc.identifier.instname.spa.fl_str_mv instname:Pontificia Universidad Javeriana
dc.identifier.reponame.spa.fl_str_mv reponame:Repositorio Institucional - Pontificia Universidad Javeriana
dc.identifier.repourl.spa.fl_str_mv repourl:https://repository.javeriana.edu.co
url https://www.karger.com/Article/Abstract/494360
http://hdl.handle.net/10554/60019
https://doi.org/10.1159/000494360
identifier_str_mv 0042-1138 / 1423-0399 (Electrónico)
instname:Pontificia Universidad Javeriana
reponame:Repositorio Institucional - Pontificia Universidad Javeriana
repourl:https://repository.javeriana.edu.co
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.citationstartpage.spa.fl_str_mv 233
dc.relation.citationendpage.spa.fl_str_mv 237
dc.relation.ispartofjournal.spa.fl_str_mv Urologia Internationalis
dc.relation.citationvolume.spa.fl_str_mv 102
dc.relation.citationissue.spa.fl_str_mv 2
dc.rights.licence.*.fl_str_mv Atribución-NoComercial 4.0 Internacional
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc/4.0/
dc.rights.coar.spa.fl_str_mv http://purl.org/coar/access_right/c_abf2
rights_invalid_str_mv Atribución-NoComercial 4.0 Internacional
http://creativecommons.org/licenses/by-nc/4.0/
http://purl.org/coar/access_right/c_abf2
dc.format.spa.fl_str_mv PDF
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institution Pontificia Universidad Javeriana
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