Publication details
Bartterov syndróm u detí: súbor osmich prípadov z Českej republiky a Slovenska
| Title in English | Bartter syndrome in children: a series of eight cases from the Czech republic and Slovakia |
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| Authors | |
| Year of publication | 2024 |
| Type | Article in Periodical |
| Magazine / Source | Česko-slovenská pediatrie |
| Citation | |
| Keywords | Bartter syndrome, tubulopathy, hypokalemia, metabolic alkalosis, hyperaldosteronism |
| Description | Bartter syndrome includes a group of rare genetically determined tubulopathies accompanied by increased urinary salt losses. The pathogenetic basis is a disorder of transport systems responsible for the reabsorption of salts, primarily in the thick ascending limb of the loop of Henle. The basic characteristics of Bartter syndrome include hypokalemic, hypochloremic metabolic alkalosis and secondary (hyperreninemic) hyperaldosteronism with normal or low systemic blood pressure. Clinical manifestations vary depending on the affected gene, with five different genespecific phenotypes of the disease being recognized. In the article, we present a group of 8 patients from the Czech Republic and Slovakia with genetically confirmed Bartter syndrome and their clinical and laboratory phenotype. |