Publication details

Gitelmanův syndrom provázený manifestní tetanií-kazuistika

Title in English Gitelman's Syndrome Associated with Tetany - a Case Report
Authors

DOLEŽEL Zdeněk OŠLEJŠKOVÁ Hana PAPEŽ Jan HANÁKOVÁ Petra

Year of publication 2013
Type Article in Periodical
Magazine / Source Česká a Slovenská neurologie a neurochirurgie
MU Faculty or unit

Faculty of Medicine

Citation
Field Neurology, neurosurgery, neurosciences
Keywords hypokalaemia; hypomagnesaemia; tetany; Gitelman s syndrome
Attached files
Description Tetany is a condition of increased neuromuscular excitalility with variable clinical manifestations. Tetany is a most frequently associated with Gitelman s syndrome. It is a salt-losing renai tubulopathy that is characterized by hypokaiaemia, hypomagnesaemia, metabolic alkalosis, hypocalciuria and hyperre-mnemic-hyperaidosteronism. This case study describes a 16-year-old girl with two undi-agnosed episodes of normocaicaemic tetary. Following the third manifestation of tetany, a large battery of laboratory tests was performed and, based on these data, clinical diagnosis of Gitelman s syndrome was made. Diagnosis of Gitelman s syndrome was confirmed by gene-sequencing analysis.

You are running an old browser version. We recommend updating your browser to its latest version.

More info