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  Česky / Czech version Čes. -slov. Pediat., 2003, No.6. p. 391-393
 
Gitelman’s Syndrome 
Gazdíková K., Gazdík F. 

Ústav preventívnej a klinickej medicíny, Klinika farmakoterapie, Bratislava riaditeľ doc. MUDr. Š. Nyulassy, DrSc.
 


Summary:

       Gitelman’s syndrome is a hereditary renal disorder with hypomagnesaemia, hypokalaemia and hypokalciuria, distinct from Bartter’s syndrome. As compared to those with Bartter’s syndrome, patients with Gitelman’s syndrome present at an older age, and they have a milder clinical picture, normal or slightly decreased concentrating ability, reduced urinary excretion of calcium, and permanently decreased serum magnesium level. Gitelman’s syndrome is caused by defective NaCl transport in the distal convoluted tubule and linked to the gene encoding the thiazide sensitive Na-Cl cotransporter located on chromosome 16q. Replacement of magnesium salt is indicated in treatment of Gitelman’s syndrome. Long-term prognosis in terms of maintaining growth, preserving renal function and quality of life are favourable.

        Key words: Gitelman’s syndrome, hypokalaemia, Bartter’s syndrome, sodium chloride cotransporter
       

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