title: An adolescent with tingling and numbness of hand: gitelman syndrome.
abstract: BACKGROUND
  Gitelman syndrome is an inherited autosomal recessive disorder. It is usually diagnosed incidentally during adolescence or early adulthood based on clinical and biochemical findings.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Division of Nephrology, University of Florida, Gainesville, Florida, USA.
authors.forename: Atul
authors.initials: A
authors.lastname: Poudel
keywords: Adolescent; Gitelman syndrome; Hyperrenineimic hyperaldosteronism; Hypokalemia