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Gitelman Syndrome

Gitelman Syndrome is a salt-losing disorder of the kidneys that usually becomes manifest during adolescence or early adulthood. Laboratory findings include hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuri. Patients usually present with muscle weakness, salt craving, thirst, nocturia, facial paresthesia, tetany, and abdominal pain.

Gitelman Syndrome is an autosomal recessive disorder. In most GS patients, the disease is caused by mutations in the thiazide-sensitive sodium-chloride cotransporter (NCCT) located in the apical membrane of cells in the distal convoluted tubule of the kidney. These mutations decrease NCCT activity and reduce NaCl reabsorption in the distal collecting duct, which leads to volume depletion. The renin-aldosterone system becomes activated leading to sodium reabsorption, potassium secretion and hypokalemia. Aldosterone also increases proton secretion leading to metabolic alkalosis. Calcium absorption is increased in response to extracellular volume contraction, leading to hypocalciuria. Hypomagnesemia occurs because of reduced expression of the epithelial Mg2+ transport channel TRPM6 and decreased magnesium reabsorption.

Patients with Gitelman Syndrome need to maintain a high-sodium and high-potassium diet. They should also magnesium supplements because hypomagnesemia is believed to be the cause of chondrocalcinosis. If electrolyte supplementation is insufficient, aldosterone antagonists or EnaC (sodium channel in the collecting duct) inhibitors should be considered. The combination of amiloride and KCl has been effective. Spironolactone or eplerenone can be added as required.

Cotovio P, et al. Gitelman syndrome. BMJ Case Rep 2013;2013:bcr–2013-009095

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Murienne B, et al. Gitelman syndrome: a crucial role of laboratory medicine for the diagnosis. Ann Biol Clin (Paris) 2013;71:235–9.

Nakhoul F, et al. Gitelman's syndrome. A pathophysiological and clinical uptodate. Endocrine 2012;41:53–

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