AUTHOR=Florea Laura , Caba Lavinia , Gorduza Eusebiu Vlad 

TITLE=Genetic Heterogeneity in Bartter Syndrome: Clinical and Practical Importance

JOURNAL=Frontiers in Pediatrics

VOLUME=Volume 10 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.908655

DOI=10.3389/fped.2022.908655

ISSN=2296-2360

ABSTRACT=1	Bartter syndrome (BS) is a rare tubulopathy that produced polyuria, hypokalemia, hypochloremic metabolic alkalosis, normotensive hyperreninemic hyperaldosteronism. It is characterized by locus, clinical and allelic heterogeneity. Types 1-4 Bartter Syndrome are inherited according to an autosomal recessive pattern, while type 5, which is transient, is X linked. There are specific correlations between the clinical expression and the molecular defect, but being a rare disease such studies are rare. Therapeutic interventions are different, being correlated with types of Bartter Syndrome.