Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/2629
Título : Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
Autor : García Castaño, Alejandro
Pérez de Nanclares, Gustavo
Madariaga, Leire
Aguirre, Mireia
Madrid, Álvaro
Chocrón, Sara
Nadal, Inmaculada
Navarro, Mercedes
Lucas, Elena
Fijo, Julia
Espino, Mar
Espitaletta, Zilac
García Nieto, Víctor
Barajas de Frutos, David
Loza, Reyner
Pintos, Guillem
Castaño, Luis
Ariceta, Gema
Filiación: [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.
Grupo de Investigación: RenalTube Group
Palabras clave : Alcalosis
Alelos
Síndrome de bartter
Canales de cloruro
Deshidratación
Exones
Genotipo
Humanos
Hipercalciuria
Hipopotasemia
Intrones
Nefrocalcinosis
Polidipsia
Reacción en cadena de la polimerasa
Remisión y consulta
Eliminación de secuencia
MeSH: Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Acid-Base Imbalance::Alkalosis
Medical Subject Headings::Diseases::Endocrine System Diseases::Adrenal Gland Diseases::Adrenocortical Hyperfunction::Hyperaldosteronism::Bartter Syndrome
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Membrane Transport Proteins::Ion Channels::Chloride Channels
Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::Dehydration
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Urological Manifestations::Hypercalciuria
Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Water-Electrolyte Imbalance::Hypokalemia
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::DNA, Intergenic::Introns
Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Calcinosis::Nephrocalcinosis
Medical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Polydipsia
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction
Medical Subject Headings::Health Care::Health Services Administration::Organization and Administration::Professional Practice::Referral and Consultation
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Sequence Deletion
Fecha de publicación : 13-Mar-2017
Editorial : Public Library of Science
Cita Bibliográfica: García 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.
Abstract: Type 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.
Descripción : Membership 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.
URI: http://hdl.handle.net/10668/2629
Versión del editor : http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0173581#abstract0
DOI: 10.1371/journal.pone.0173581
ISSN : 1932-6203 (Online)
Appears in Collections:01- Artículos - Hospital Virgen del Rocío
01- Artículos - Complejo Hospitalario Universitario de Granada

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