Three cases of Gitelman's syndrome possibly caused by different mutations in the thiazide-sensitive Na-Cl cotransporter.
Three adult Japanese cases of Gitelman's syndrome were characterized by secondary aldosteronism, hypokalemic alkalosis, hypomagnesemia, and hypocalciuria. Two were revealed to be familial cases. A mutation in the thiazide-sensitive Na-Cl cotransporter gene, which had already been confirmed in one family (Takeuchi et al. J Clin Endocrinol Metab 81: 4496,1996), was not detected in the other two cases. These observations may possibly support the previous report (Simon et al. Nature Genet 12: 24, 1996) that Gitelman's syndrome is caused by a variety of mutations in the thiazide-sensitive Na-Cl cotransporter.
Takeuchi
K
K
Second Department of Internal Medicine, Tohoku University School of Medicine, Aoba-ku, Sendai.
Kato
T
T
Taniyama
Y
Y
Tsunoda
K
K
Takahashi
N
N
Ikeda
Y
Y
Omata
K
K
Imai
Y
Y
Saito
T
T
Ito
S
S
Abe
K
K
D000368:Aged; D001477:Bartter Syndrome / Q000235:genetics*; D001581:Benzothiadiazines; D002352:Carrier Proteins / Q000187:drug effects* / Q000235:genetics*; D004232:Diuretics; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D049993:Sodium Chloride Symporter Inhibitors / Q000494:pharmacology*; D028021:Sodium-Potassium-Chloride Symporters
D001581:Benzothiadiazines; D002352:Carrier Proteins; D004232:Diuretics; D049993:Sodium Chloride Symporter Inhibitors; D028021:Sodium-Potassium-Chloride Symporters