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KMID : 0191120020170040567
Journal of Korean Medical Science
2002 Volume.17 No. 4 p.567 ~ p.570
Attenuated Renal Excretion in Response to Thiazide Diuretics in Gitelman¢¥s Syndrome: A Case Report
Ki Chul Choi/Chung Ho Yeum
Soo Wan Kim/Seong Kwon Ma/Jung Hee Ko/Myong Yun Nah/Nam Ho Kim/Ki Chul Choi
Abstract
Gitelman's syndrome is a variant of Bartter's syndrome characterized by hypocalciuria and hypomagnesemia. The administration of thiazide diuretics may induce a subnormal increase of urinary Na+ and Cl- excretion in patients with Gitelman's syndrome, consistent with the hypothesis that less Na+ and Cl- than normal is reabsorbed by the thiazide-inhibitable transporter in Gitelman's syndrome. Specific mutations of NaCl cotransporter, coupled with mutant NaCl cotransporter expression studies clearly demonstrated that many of the characteristics of individuals with Gitelman's syndrome are explained by lack of function of NaCl cotransporter. We recently diagnosed a patient with Gitelman's syndrome by performing the thiazide and furosemide tests, and it is suggested that the clearance studies by diuretic administration may be of diagnostic help in Gitelman's syndrome.
KEYWORD
Gitelman¢¥s Syndrome, Bartter¢¥s Disease, Furosemide, Nephrons, Diuretics, Thiazide,
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