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Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

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dc.contributor.authorGarcía Castaño, Alejandro
dc.contributor.authorPérez de Nanclares, Gustavo
dc.contributor.authorMadariaga, Leire
dc.contributor.authorAguirre, Mireia
dc.contributor.authorMadrid, Álvaro
dc.contributor.authorChocrón, Sara
dc.contributor.authorNadal, Inmaculada
dc.contributor.authorNavarro, Mercedes
dc.contributor.authorLucas, Elena
dc.contributor.authorFijo, Julia
dc.contributor.authorEspino, Mar
dc.contributor.authorEspitaletta, Zilac
dc.contributor.authorGarcía Nieto, Víctor
dc.contributor.authorBarajas de Frutos, David
dc.contributor.authorLoza, Reyner
dc.contributor.authorPintos, Guillem
dc.contributor.authorCastaño, Luis
dc.contributor.authorAriceta, Gema
dc.contributor.authoraffiliation[García Castaño,A; Pérez de Nanclares,G; Castaño,L] BioCruces Health Research Institute, Ciberer, Cruces University Hospital, Bizkaia, Spain. [Madariaga,L; Aguirre,M] Pediatric Nephrology, Cruces University Hospital, Bizkaia, Spain. [Madariaga,L; Castaño,L] Department of Pediatrics, School of Medicine and Odontology, University of Basque Country UPV/EHU, Bizkaia, Spain. [Madrid,A; Chocrón,S; Ariceta,G] Pediatric Nephrology, Vall d’Hebron University Hospital, Universitat Autonoma, Barcelona, Spain. [Nadal,I] Pediatric Nephrology, Virgen del Camino Hospital, Pamplona, Spain. [Navarro,M] Pediatric Nephrology, La Paz University Hospital, Madrid, Spain. [Lucas,E] Pediatrics, Manises Hospital, Valencia, Spain. [Fijo,J] Pediatric Nephrology, Virgen del Rocío Hospital, Sevilla, Spain. [Espino,M] Pediatric Nephrology, Fundación Alcorcón University Hospital, Madrid, Spain. [Espitaletta,Z] San Ignacio University Hospital, Bogotá, Colombia. [García Nieto,V] Pediatric Nephrology, Nuestra Señora de Candelaria University Hospital, Tenerife, Canarias, Spain. [Barajas de Frutos,D] Pediatric Nephrology, Virgen de las Nieves Hospital, Granada, Spain. [Loza,R] Nephrology Unit, Cayetano Heredia University, Cayetano Heredia Hospital, Lima, Peru. [Pintos,G] Germans Trias i Pujol University Hospital, Badalona, Spain. [Castaño,L] BioCruces Health Research Institute, Ciberer, Cruces University Hospital, Bizkaia, Spain, Department of Pediatrics, School of Medicine and Odontology, University of Basque Country UPV/EHU, Bizkaia, Spain, Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain.
dc.contributor.groupRenalTube Groupes_ES
dc.date.accessioned2017-05-04T09:53:47Z
dc.date.available2017-05-04T09:53:47Z
dc.date.issued2017-03-13
dc.descriptionMembership of the RenalTube group Alejandro García Castaño, Eva Braga, Elizabeth Córdoba, Eliecer Coto, Enrique García, Elena Ramos, Flor Ángel Ordóñez, Félix Claverie, Fernando Santos, Gema Ariceta, Gustavo Pérez de Nanclares, Helena Gil, Hilaria González, Julián Rodríguez, Luis Castaño, Leire Madariaga, Mireia Aguirre, María Isabel Luis-Yanes, Natalia Mejía, Rocío Fuente, Victoria Álvarez, Víctor Manuel García, Vanessa Loredo.es_ES
dc.description.abstractType III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS.es_ES
dc.description.sponsorshipThis study was supported by two grants (PI09/90888 and PI11/01412) from the FIS of the Instituto de Salud Carlos III, Madrid, Spain, the Department of Health of the Basque Government (2014111064), and the Department of Education of the Basque Government (IT795-13).es_ES
dc.description.versionYeses_ES
dc.identifier.citationGarcía Castaño A, Pérez de Nanclares G, Madariaga L3, Aguirre M, Madrid Á, Chocrón S,et al.Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome. PLoS One. 2017 Mar 13;12(3):e0173581.es_ES
dc.identifier.doi10.1371/journal.pone.0173581es_ES
dc.identifier.essn1932-6203
dc.identifier.pmcPMC5348002
dc.identifier.pmid28288174es_ES
dc.identifier.urihttp://hdl.handle.net/10668/2629
dc.journal.titlePloS One
dc.language.isoen
dc.publisherPublic Library of Sciencees_ES
dc.relation.publisherversionhttp://journals.plos.org/plosone/article?id=10.1371/journal.pone.0173581#abstract0es_ES
dc.rights.accessRightsopen access
dc.subjectAlcalosises_ES
dc.subjectAleloses_ES
dc.subjectSíndrome de bartteres_ES
dc.subjectCanales de cloruroes_ES
dc.subjectDeshidrataciónes_ES
dc.subjectExoneses_ES
dc.subjectGenotipoes_ES
dc.subjectHumanoses_ES
dc.subjectHipercalciuriaes_ES
dc.subjectHipopotasemiaes_ES
dc.subjectIntroneses_ES
dc.subjectNefrocalcinosises_ES
dc.subjectPolidipsiaes_ES
dc.subjectReacción en cadena de la polimerasaes_ES
dc.subjectRemisión y consultaes_ES
dc.subjectEliminación de secuenciaes_ES
dc.subject.meshMedical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Acid-Base Imbalance::Alkalosises_ES
dc.subject.meshMedical Subject Headings::Diseases::Endocrine System Diseases::Adrenal Gland Diseases::Adrenocortical Hyperfunction::Hyperaldosteronism::Bartter Syndromees_ES
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Chloride Channelses_ES
dc.subject.meshMedical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::Dehydrationes_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exonses_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotypees_ES
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humanses_ES
dc.subject.meshMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Urological Manifestations::Hypercalciuriaes_ES
dc.subject.meshMedical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::Hypokalemiaes_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::DNA, Intergenic::Intronses_ES
dc.subject.meshMedical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Calcinosis::Nephrocalcinosises_ES
dc.subject.meshMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Polydipsiaes_ES
dc.subject.meshMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reactiones_ES
dc.subject.meshMedical Subject Headings::Health Care::Health Services Administration::Organization and Administration::Professional Practice::Referral and Consultationes_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Sequence Deletiones_ES
dc.titlePoor phenotype-genotype association in a large series of patients with Type III Bartter syndromees_ES
dc.typeresearch article
dc.type.hasVersionVoR
dspace.entity.typePublication

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