Attenuated renal excretion in response to thiazide diuretics in Gitelman's syndrome: a case report.
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.
Yeum
Chung-Ho
CH
Department of Internal Medicine, Cheju National University Medical School, Jeju, Korea.
Kim
Soo-Wan
SW
Ma
Seong-Kwon
SK
Ko
Jung-Hee
JH
Nah
Myong-Yun
MY
Kim
Nam-Ho
NH
Choi
Ki-Chul
KC
D000293:Adolescent; D001477:Bartter Syndrome / Q000175:diagnosis* / Q000378:metabolism / Q000503:physiopathology; D001581:Benzothiadiazines; D002712:Chlorides / Q000097:blood / Q000652:urine; D004232:Diuretics; D004573:Electrolytes / Q000097:blood / Q000652:urine; D005260:Female; D005665:Furosemide; D006801:Humans; D007668:Kidney / Q000503:physiopathology*; D007677:Kidney Function Tests; D012964:Sodium / Q000097:blood / Q000652:urine; D049993:Sodium Chloride Symporter Inhibitors; D049992:Sodium Chloride Symporters; D027981:Symporters / Q000378:metabolism; D013577:Syndrome
D001581:Benzothiadiazines; D002712:Chlorides; D004232:Diuretics; D004573:Electrolytes; D049993:Sodium Chloride Symporter Inhibitors; D049992:Sodium Chloride Symporters; D027981:Symporters; D005665:Furosemide; D012964:Sodium