JOURNAL OF THE CZECH PEDIATRIC SOCIETY AND THE SLOVAK PEDIATRIC SOCIETY

Čes-slov Pediat 2024, 79(2):102-107 | DOI: 10.55095/CSPediatrie2024/015

Bartter syndrome in children: a series of eight cases from the Czech Republic and Slovakia

Daniel Csomó1, Jan Papež2, Zdeněk Doležel2, Martin Dluholucký3, Eva Sládková4, Ľudmila Podracká1
1 Detská klinika, Lekárska fakulta, Univerzita Komenského a Národný ústav detských chorôb, Bratislava
2 Pediatrická klinika, Lékařská fakulta, Masarykova univerzita a FN Brno
3 II. Detská klinika, Slovenská zdravotnícka univerzita a Detská fakultná nemocnica s poliklinikou, Banská Bystrica
4 Dětská klinika, FN Plzeň

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 gene-specific 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.

Keywords: Bartterov syndróm, tubulopatie, hypokaliémia, metabolická alkalóza, hyperaldosteronizmus

Accepted: February 8, 2024; Published: April 1, 2024  Show citation

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Csomó D, Papež J, Doležel Z, Dluholucký M, Sládková E, Podracká Ľ. Bartter syndrome in children: a series of eight cases from the Czech Republic and Slovakia. Ces-slov Pediat. 2024;79(2):102-107. doi: 10.55095/CSPediatrie2024/015.
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