Publication: Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
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Identifiers
Date
2017-03-13
Authors
García Castaño, Alejandro
Pérez de Nanclares, Gustavo
Madariaga, Leire
Aguirre, Mireia
Madrid, Álvaro
Chocrón, Sara
Nadal, Inmaculada
Navarro, Mercedes
Lucas, Elena
Fijo, Julia
Advisors
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Publisher
Public Library of Science
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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.
Description
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.
MeSH Terms
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
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
DeCS Terms
CIE Terms
Keywords
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
Citation
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.