Gitelman’s Syndrome

A milder clinical course with symptoms usually not apparent before age 5-10, and hypocalciuria with hypomagnesemia has been the clinical distinction between Gitelman s syndrome and true Bartter s... 

Example, Bartter s or Gitelman s syndrome, Cushing s syndrome, hyperaldosteronism (1° or 2°), and Liddle s syndrome... 

Calo, L. A., Pagnin, E., Davis, P. A., et al. (2004) Increased expression of regulator of G protein signaling-2 (RGS-2) in Bartter s/Gitelman s syndrome. A role in the control of vascular tone and implication for hypertension. J. Clin. Endocrinol. Metab. 89, 4153 157. 

Features include muscle weakness and cramps, paraesthesia, nausea, vomiting, constipation, abdominal pain, polyuria, polydipsia, depression, confusion and psychosis. Hypokalaemia may cause brady/tachyarrhythmias, hypotension, respiratory failure, ileus and altered mental state. It also increases the toxicity of cardiac glycosides. There are several associated disease states (e.g. diarrhoea, vomiting, renal tubular acidosis types I and II, hypomagnesaemia, Conn s syndrome, Cushing s disease, Gitelman s syndrome, villous adenoma, pyloric stenosis, intestinal fistulae). 

Kunchaparty S, Palcso M, Berkman J et al (1999) Defective processing and expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman s syndrome. Am J Physiol 277 F643-F649... 

Excess mineralocorticoid activity Hyperaldosteronism Cushing s syndrome Bartter s syndrome Gitelman s syndrome Excessive black licorice intake Profound potassium depletion Magnesium deficiency Liddle s syndrome Unclassified Alkali administration Milk-alkali syndrome... 

Colussi G, Rombola G, De Eerrari ME, et al. Correction of hypokalemia with antialdosterone therapy in Gitelman s syndrome. Am J Nephrol 1994 14 127-135. 

SLC12 Electroneutral cation-Cl" cotransporter family 9 Gitelman s syndrome... 

Na or Ct binding to the Na -Ct symporter modifies thiazide-induced inhibition of the symporter, suggesting that the thiazide-binding site is shared or altered by both Na and Ct. The Na -Ct symporter (called ENCCl) is expressed predominantly in the kidney and is localized to the apical membrane of DCT epithelial cells its expression is regulated by aldosterone. Mutations in the Na -Ct symporter cause a familial hypokalemic alkalosis called Gitelman s syndrome. 

Hypermagnesuria is encountered in the case of metabolic and iatrogenic disorders, such as primary and secondary hyperaldosteronism (extracellular volume expansion), hypercalcemia (competition Ca/Mg at the thick ascending loop of Henle), hyperparathyroidism, and phosphate or potassium depletion. Hypermagnesuria may also result from tubulopathy, as the selective defect of the Mg tubular reabsorption (chromosome Hq23), Bartter s syndrome (thick ascending loop of Henle), or Gitelman s syndrome (distal convoluted tubule). 

Kamel, K. S., Oh, M. S. and Halperin, M. L. (2002). Bartter s, Gitelman s, and Gordon s syndromes. From physiology to molecular biology and back, yet still some unanswered questions. Nephron. 92(Suppl. 1), 18-27. 

Simon DB, Nelson-WiUiams C, Bia MJ, EUison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP. 1996. Gitelman s variant of Bartter s syndrome, inherited hypokalaemic alkalosis, is eaused... 

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