Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 
Visit old site
Home Print this page Email this page Small font size Default font size Increase font size
Users Online: 53
Year : 2015  |  Volume : 7  |  Issue : 1  |  Page : 27-29

An adolescent with tingling and numbness of hand: Gitelman syndrome

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
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1947-2714.150086

Rights and Permissions

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.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded381    
    Comments [Add]    
    Cited by others 1    

Recommend this journal