Article
Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3.
Scientific reports - 3 Aug 2023
García-Castaño Alejandro, Gómez-Conde Sara, Gondra Leire, Herrero María, Aguirre Mireia, de la Hoz Ana-Belén, Castaño Luis, Madariaga Leire
Abstract excerpt
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 describe the different molecular findings in patients with a clinical diagnosis of classic BS. We included 27 patients (26...
Topics
- Female
- Humans
- Infant
- Child, Preschool
- Child
- Adolescent
- Young Adult
- Adult
- Bartter Syndrome
- Polyhydramnios
- Genotype
- Solute Carrier Family 12, Member 1