Gitelman's syndrome: report of a 19-year old woman with intractable hypomagnesemia and hypokalemia, and a review of the syndrome.
A case of refractory hypomagnesemia associated with hypokalemic alkalosis and hypocalciuria (Gitelman's syndrome) is described. The genetic mutations discovered to cause the hypokalemic alkalotic syndromes are described (the thiazide-sensitive sodium chloride co-transporter gene or TSC mutations in Gitelman's syndrome, and the sodium-potassium-chloride co-transporter gene or NKCC2 mutations in Bartter's syndrome). The molecular, electrolyte, and volume abnormalities are described, and the implications for diagnosis, therapy, and future research discussed.
Singh
P J
PJ
Internal Medicine Service, Jackson Medical Center, MN, USA.
Nash
J L
JL
Santella
R N
RN
Zawada
E T
ET
D000328:Adult; D000471:Alkalosis / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006996:Hypocalcemia / Q000175:diagnosis / Q000235:genetics*; D007008:Hypokalemia / Q000175:diagnosis / Q000235:genetics*; D007177:Inappropriate ADH Syndrome / Q000175:diagnosis / Q000235:genetics*; D008274:Magnesium / Q000097:blood / Q000378:metabolism*; D011379:Prognosis; D013577:Syndrome
D008274:Magnesium