Gitelman’s Syndrome Associated with Tetany – a Case Report

Česká verzia

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

Summary

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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