Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/75560
Campo DC Valoridioma
dc.contributor.authorGarcía-Villarreal, Luisen_US
dc.contributor.authorHernández-Ortega, Andreaen_US
dc.contributor.authorSánchez-Monteagudo, Anaen_US
dc.contributor.authorPeña Quintana, Luisen_US
dc.contributor.authorRamírez-Lorenzo, Teresaen_US
dc.contributor.authorRiaño, Martaen_US
dc.contributor.authorMoreno Pérez, Raquel Isabelen_US
dc.contributor.authorMonescillo Francia, Alberto Fernandoen_US
dc.contributor.authorGonzález-Santana, Danielen_US
dc.contributor.authorQuiñones, Ildefonsoen_US
dc.contributor.authorSánchez-Villegas, Almudenaen_US
dc.contributor.authorOlmo-Quintana, Vicenteen_US
dc.contributor.authorGaray Sanchez, Palomaen_US
dc.contributor.authorEspinós, Carmenen_US
dc.contributor.authorGonzález, Jesús M.en_US
dc.contributor.authorTugores, Antonioen_US
dc.date.accessioned2020-11-16T12:00:01Z-
dc.date.available2020-11-16T12:00:01Z-
dc.date.issued2021en_US
dc.identifier.issn0944-1174en_US
dc.identifier.otherScopus-
dc.identifier.urihttp://hdl.handle.net/10553/75560-
dc.description.abstractBackground: Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene. An early diagnosis is crucial to prevent evolution of the disease, as implantation of early therapeutic measures fully prevents its symptoms. As population genetics data predict a higher than initially expected prevalence, it was important to define the basic diagnostic tools to approach population screening. Methods: A highly genetically homogeneous cohort of 70 patients, belonging to 50 unrelated families, has been selected as a framework to analyze all their clinical, biochemical and genetic characteristics, to define the disease in our population, with an estimated prevalence of 1 in 12,369, and determine the most useful features that reach diagnostic value. Results: Serum ceruloplasmin below 11.5 mg/dL and cupremia below 60 μg/mL, were the best analytical predictors of the disease in asymptomatic individuals, while cupruria or hepatic copper determination were less powerful. Genetic analysis reached a conclusive diagnosis in all 65 patients available for complete testing. Of them, 48 were carriers of at least one p.Leu708Pro mutant allele, with 24 homozygotes. Nine patients carried a promoter deletion mutation, revealing that extended sequencing beyond the ATP7B gene-coding region is essential. All mutations caused hepatic damage since early ages, increasing its severity as diagnosis was delayed, and neurological symptoms appear. Conclusion: Serum ceruloplasmin determination followed by genetic screening would reduce costs and favor the prioritization of non-invasive procedures to reach a definitive diagnosis, even for asymptomatic cases.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Gastroenterologyen_US
dc.sourceJournal of Gastroenterology [ISSN 0944-1174], v. 56 (1), p. 78–89, (2021)en_US
dc.subject320506 Nefrologíaen_US
dc.subject320503 Gastroenterologíaen_US
dc.subject320607 Elementos minerales en la alimentaciónen_US
dc.subject320102 Genética clínicaen_US
dc.subject.otherCeruloplasminen_US
dc.subject.otherGeneticsen_US
dc.subject.otherWilson Diseaseen_US
dc.titleWilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneityen_US
dc.typeinfo:eu-repo/semantics/Articleen_US
dc.typeArticleen_US
dc.identifier.doi10.1007/s00535-020-01745-0en_US
dc.identifier.scopus85095419234-
dc.contributor.authorscopusid6602905770-
dc.contributor.authorscopusid57219779198-
dc.contributor.authorscopusid57194242935-
dc.contributor.authorscopusid6603266503-
dc.contributor.authorscopusid57191876570-
dc.contributor.authorscopusid37067926100-
dc.contributor.authorscopusid57219781208-
dc.contributor.authorscopusid6603254443-
dc.contributor.authorscopusid16315801300-
dc.contributor.authorscopusid57219774270-
dc.contributor.authorscopusid57210287333-
dc.contributor.authorscopusid23668428700-
dc.contributor.authorscopusid54392283600-
dc.contributor.authorscopusid6601959468-
dc.contributor.authorscopusid57219775174-
dc.contributor.authorscopusid6701671839-
dc.identifier.eissn1435-5922-
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages12en_US
dc.utils.revisionen_US
dc.identifier.ulpgcen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr1,928-
dc.description.jcr6,772-
dc.description.sjrqQ1-
dc.description.jcrqQ2-
dc.description.scieSCIE-
dc.description.miaricds11,0-
item.grantfulltextnone-
item.fulltextSin texto completo-
crisitem.author.deptGIR IUIBS: Nutrición-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptDepartamento de Ciencias Clínicas-
crisitem.author.deptDepartamento de Enfermería-
crisitem.author.deptDepartamento de Ciencias Médicas y Quirúrgicas-
crisitem.author.deptGIR IUIBS: Nutrición-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.deptGIR IUIBS: Diabetes y endocrinología aplicada-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.orcid0000-0001-6052-5894-
crisitem.author.orcid0000-0002-9490-4427-
crisitem.author.orcid0000-0001-7733-9238-
crisitem.author.orcid0000-0002-1849-9239-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNamePeña Quintana, Luis-
crisitem.author.fullNameMoreno Pérez, Raquel Isabel-
crisitem.author.fullNameMonescillo Francia, Alberto Fernando-
crisitem.author.fullNameSánchez Villegas,Almudena-
crisitem.author.fullNameGaray Sanchez, Paloma-
crisitem.author.fullNameTugores Céster,Antonio-
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