Gitelman’s Syndrome Associated with Tetany –  a Case Report


Authors: Z. Doležel 1;  H. Ošlejšková 2;  J. Papež 1;  P. Hanáková 2
Authors‘ workplace: LF MU a FN Brno Pediatrická klinika 1;  LF MU a FN Brno Klinika dětské neurologie 2
Published in: Cesk Slov Neurol N 2013; 76/109(5): 634-636
Category: Case Report

Overview

Tetany is a condition of increased neuromuscular excitability with variable clinical manifestations. Tetany is the most frequently associated with hypocalcaemia. Tetany is less frequently associated with Gitelman’s syndrome. It is a salt-losing renal tubulopathy that is characterized by hypokalaemia, hypomagnesaemia, metabolic alkalosis, hypocalciuria and hyperreninemic-hyperaldosteronism. This case study describes a 16-year-old girl with two undiagnosed episodes of normocalcaemic tetany. 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.

Key words:
hypokalaemia – hypomagnesaemia – tetany – Gitelman’s syndrome

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manu­script met the ICMJE “uniform requirements” for biomedical papers.


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Labels
Paediatric neurology Neurosurgery Neurology

Article was published in

Czech and Slovak Neurology and Neurosurgery

Issue 5

2013 Issue 5

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