#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

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.


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.

Labels
Paediatric neurology Neurosurgery Neurology

Article was published in

Czech and Slovak Neurology and Neurosurgery

Issue 5

2013 Issue 5

Most read in this issue
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#