RT Journal Article
T1 Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
A1 García Castaño, Alejandro
A1 Pérez de Nanclares, Gustavo
A1 Madariaga, Leire
A1 Aguirre, Mireia
A1 Madrid, Álvaro
A1 Chocrón, Sara
A1 Nadal, Inmaculada
A1 Navarro, Mercedes
A1 Lucas, Elena
A1 Fijo, Julia
A1 Espino, Mar
A1 Espitaletta, Zilac
A1 García Nieto, Víctor
A1 Barajas de Frutos, David
A1 Loza, Reyner
A1 Pintos, Guillem
A1 Castaño, Luis
A1 Ariceta, Gema
K1 Alcalosis
K1 Alelos
K1 Síndrome de bartter
K1 Canales de cloruro
K1 Deshidratación
K1 Exones
K1 Genotipo
K1 Humanos
K1 Hipercalciuria
K1 Hipopotasemia
K1 Intrones
K1 Nefrocalcinosis
K1 Polidipsia
K1 Reacción en cadena de la polimerasa
K1 Remisión y consulta
K1 Eliminación de secuencia
AB 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.
PB Public Library of Science
YR 2017
FD 2017-03-13
LK http://hdl.handle.net/10668/2629
UL http://hdl.handle.net/10668/2629
LA en
NO 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.
NO 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.
NO This 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).
DS RISalud
RD Apr 17, 2025