title: Gitelman's syndrome: report of a 19-year old woman with intractable hypomagnesemia and hypokalemia, and a review of the syndrome.
abstract: 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.
authors.affiliation: Internal Medicine Service, Jackson Medical Center, MN, USA.
authors.forename: P J
authors.initials: PJ
authors.lastname: Singh
authors.forename: J L
authors.initials: JL
authors.lastname: Nash
authors.forename: R N
authors.initials: RN
authors.lastname: Santella
authors.forename: E T
authors.initials: ET
authors.lastname: Zawada
mesh_terms: 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
chemical_list: D008274:Magnesium