Gitelman's syndrome: report of one case.
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.
Chan
Chan-Fai
CF
Department of Pediatrics, Shin Kong Wu Ho-Su Memorial, Taipei, Taiwan.
Mu
Shu-Chi
SC
Lau
Beng-Huat
BH
Chang
Chi-Jen
CJ
Lin
Shin-Hua
SH
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
D011955:Receptors, Drug; C578874:SLC12A3 protein, human; D064486:Solute Carrier Family 12, Member 3; D027981:Symporters