Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
Abstract Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory molecular diagnosis may be difficult due to genetic heterogeneity and overlapping of clinical symptoms. The aim of our study was to...
Main Authors: | Alejandro García-Castaño, Sara Gómez-Conde, Leire Gondra, María Herrero, Mireia Aguirre, Ana-Belén de la Hoz, Luis Castaño, Renaltube group, Leire Madariaga |
---|---|
Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2023-08-01
|
Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-023-38179-6 |
Similar Items
-
Hereditary distal renal tubular acidosis: Genotypic correlation, evolution to long term, and new therapeutic perspectives
by: Sara Gómez-Conde, et al.
Published: (2021-07-01) -
Acidosis tubular renal distal hereditaria: correlación genotípica, evolución a largo plazo y nuevas perspectivas terapéuticas
by: Sara Gómez-Conde, et al.
Published: (2021-07-01) -
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.
by: Alejandro García Castaño, et al.
Published: (2013-01-01) -
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome.
by: Alejandro García Castaño, et al.
Published: (2017-01-01) -
25(OH)Vitamin D Deficiency and Calcifediol Treatment in Pediatrics
by: Luis Castano, et al.
Published: (2022-04-01)