title: Gitelman's syndrome: report of one case.
abstract: Gitelman's syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is primarily caused by inactivating mutations of the SLC12A3 gene encoding the thiazide-sensitive Na-Cl cotransporter (NCC) on the apical membrane of distal convoluted tubule. We report an eight-year-old girl with incidental hypokalemia prior to appendectomy. All biochemical studies were consistent with GS. Genetic analysis of the NCC gene revealed two novel mutations (N442K and IVS6-1G > A). With regular potassium and magnesium supplementation, the patient has remained normal growth and development during two years of follow-up.
authors.affiliation: Department of Pediatrics, Shin Kong Wu Ho-Su Memorial, Taipei, Taiwan.
authors.forename: Chan-Fai
authors.initials: CF
authors.lastname: Chan
authors.forename: Shu-Chi
authors.initials: SC
authors.lastname: Mu
authors.forename: Beng-Huat
authors.initials: BH
authors.lastname: Lau
authors.forename: Chi-Jen
authors.initials: CJ
authors.lastname: Chang
authors.forename: Shin-Hua
authors.initials: SH
authors.lastname: Lin
mesh_terms: D002648:Child; D005260:Female; D053579:Gitelman Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007008:Hypokalemia / Q000209:etiology; D009154:Mutation; D011955:Receptors, Drug / Q000235:genetics; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters / Q000235:genetics
chemical_list: D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters