Abstract

Gitelman syndrome has a prevalence of 1-10/40.000, representing the most common inherited disease of renal tubules. It is due to inactivating mutations of the SLC12A3 gene that encodes the thiazide-sensitive Sodium Chloride Cotransporter (NCC) located in the apical membrane of the distal convoluted tubules, resulting in hypokalemic metabolic alkalosis associated with hypomagnesemia and hypocalciuria. Although it is generally considered a benign tubular disease, a number of complications have been observed in some patients.

Highlights

  • Gitelman syndrome has a prevalence of 1-10/40,000, representing the most common inherited disease of renal tubules

  • Gitelman syndrome is the most common autosomal recessive inherited disease of renal tubules with a prevalence of 1-10/40,000. It is characterized by hypokalemic metabolic alkalosis associated with hypomagnesemia and hypocalciuria [1,2,3,4]

  • Most of these clinical findings are related to chronic hypokalemia and hypomagnesemia which can be identified in serum chemistry and can help in the diagnosis of the syndrome (Table 2) [1,12,13]

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Summary

Genetic disorders

Barrter syndrome: normal magnesium levels are commonly observed, other common findings include young age, failure to thrive, and polyuria. Kir (an autosomal resessive disorder characterized by the EAST syndrome [epilepsy, ataxia, sensozineural deafness and tubulopathy]). Other clinical manifestations are common (early renal disease, renal cysts, maternity onset diabetes mellitus, increased transaminases and urogenital malformations)

Acquired disorders
Conflict of Interest

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