Article
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
PloS one - 1 Jan 2017
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
Abstract excerpt
INTRODUCTION: 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%...
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