Gitelman’s Syndrome Associated with Tetany – a Case Report

Czech version

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.

Sources

1. Vargas‑ Poussou R, Dahan K, Venisse A, Riviera‑ Munoz E, Debaix H, Grisart B et al. Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol 2011; 22(4): 693– 703.

2. Ueda K, Makita N, Kawarazaki H, Fujiwara T, Unuma S, Monkawa T et al. A novel compound heterozygous mutation of Gitelman’s syndrome in Japan, as diagnosed by an extraordinary response of the fractional excretion rate of chloride in the trichlormethiazide loading test. Intern Med 2012; 51(12): 1549– 1553.

3. Skalova S, Neuman D, Lnenicka P, Stekrova J. Gitelman syndrome as a cause of psychomotor retardation in a toddler. Arab J Nephrol Transplant 2013; 6(1): 37– 39.

4. Raza F, Sultan M, Qamar K, Jawad A, Jawa A. Gitelman syndrome manifesting in early childhood and leading to delayed puberty: a case report. J Med Case rep 2012; 6(1): 331.

5. Tammaro F, Bettinelli A, Cattarelli D, Cavazza A, Colombo C, Syrén ML et al. Early appearance of hypokalemia in Gitelman syndrome. Pediatr Nephrol 2010; 25(10): 2179– 2182.

6. Fremont OT, Chan JC. Understanding Bartter syndrome and Gitelman syndrome. World J Pediatr 2012; 8(1): 25– 30.

7. Cortesi C, Lava SA, Bettinelli A, Tammaro F, Giannini O, Caiata‑ Zufferey M et al. Cardiac arrhythmias and rhabdomyolysis in Bartter‑ Gitelman patients. Pediatr Nephrol 2010; 25(10): 2005– 2008.

8. Rim PC, Keith MP. Chondrocalcinosis and hypomagnesemia in a 26‑year‑ old woman. J Clin Rheumatol 2011; 17(6): 334– 335.

9. Slovacek L. Gitelman’s syndrome: A hereditary disorder characterized by hypokalemia and hypomagnesaemia. Eur J Gen Med 2009; 6(2): 127– 130.

10. Rušavý Z, Hudec A, Karbanová J, Korečko V, Janů R,Kališ V. Gitelman syndrome in pregnancy – a severe hypokalemia with favorable perinatal prognosis. Ceska Gynekol 2012; 77(5): 421– 423.