J Korean Med Sci.  2002 Aug;17(4):567-570. 10.3346/jkms.2002.17.4.567.

Attenuated Renal Excretion in Response to Thiazide Diuretics in Gitelman's Syndrome: A Case Report

• Yeum CH
• Kim SW
• Ma SK
• Ko JH
• Nah MY
• Kim NH
• Choi KC

• KMID: 1109772
• DOI: http://doi.org/10.3346/jkms.2002.17.4.567

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

MeSH Terms

Adolescent
Bartter Syndrome/*diagnosis/metabolism/physiopathology
*Benzothiadiazines
Chlorides/blood/urine
Diuretics/diagnostic use
Electrolytes/blood/urine
Female
Furosemide/diagnostic use
Humans
Kidney/*physiopathology
Kidney Function Tests
Sodium/blood/urine
Sodium Chloride Symporter Inhibitors/*diagnostic use
Sodium Chloride Symporters
Symporters/metabolism
Syndrome