North American Journal of Medical Sciences

CASE REPORT
Year
: 2015  |  Volume : 7  |  Issue : 1  |  Page : 27--29

An adolescent with tingling and numbness of hand: Gitelman syndrome


Atul Poudel 
 Department of Pediatrics, Division of Nephrology, University of Florida, Gainesville, Florida, USA

Correspondence Address:
Atul Poudel
Department of Pediatrics, Division of Nephrology, University of Mississippi Medical Center, Batson Children`s Hospital, 2500 N State Street, R-116A, Jackson, MS 39216
USA

Context: Gitelman syndrome is an inherited autosomal recessive disorder. It is usually diagnosed incidentally during adolescence or early adulthood based on clinical and biochemical findings. Case Report: We present a case of 16 years old adolescent female presenting with recurrent chest pain, tingling, and numbness of bilateral hands. Diagnosis was established by the typical biochemical abnormalities with hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and hyperreninemic hyperaldosteronism. Genetic diagnosis was confirmed by sequence analysis of the SLC12A3 gene showing the compound heterozygous mutation encoding the thiazide-sensitive sodium chloride co-transporter. The patient was treated with oral potassium, magnesium, and amiloride with complete improvement of symptoms and biochemical profile. Conclusion: Gitelman syndrome should be considered as a differential diagnosis in work up of hypokalemia, especially in adolescent age group. The presence of hypokalemia, metabolic alkalosis, hypomagnesaemia, hypocalciuria, and mutation analysis provides the final diagnosis.


How to cite this article:
Poudel A. An adolescent with tingling and numbness of hand: Gitelman syndrome.North Am J Med Sci 2015;7:27-29


How to cite this URL:
Poudel A. An adolescent with tingling and numbness of hand: Gitelman syndrome. North Am J Med Sci [serial online] 2015 [cited 2021 Oct 19 ];7:27-29
Available from: https://www.najms.org/article.asp?issn=1947-2714;year=2015;volume=7;issue=1;spage=27;epage=29;aulast=Poudel;type=0