Gitelmanův syndrom provázený manifestní tetanií-kazuistika
| Title in English | Gitelman's Syndrome Associated with Tetany - a Case Report |
|---|---|
| Authors | |
| Year of publication | 2013 |
| Type | Article in Periodical |
| Magazine / Source | Česká a Slovenská neurologie a neurochirurgie |
| MU Faculty or unit | |
| 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. |