title: Hypokalaemia and failure to thrive: report of a misleading onset.
abstract: OBJECTIVE
  We report a case of Gitelman Syndrome (GS) in a 9-year-old girl, previously diagnosed as a Bartter syndrome at one year of life.
  
  
  METHODS
  She had been treated with potassium, for over 8 years and was admitted because of fatigue, numbness and weakness of both legs. The patient has typical laboratory findings, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria, thus GS was suspected.
  
  
  RESULTS
  Genetic analysis was performed two mutations IVS9(+1)G>T were detected in the thiazide-sensitive Na-Cl cotransporter (TSC) gene (SLC12A3), thus she was diagnosed as having GS. She was treated with oral potassium and magnesium supplements with resolution of the symptoms.
  
  
  CONCLUSIONS
  This case reminded us that doctors should be alert to the initial presentation of renal tubular diseases. Detailed electrolyte analysis, hormone evaluations and clinic follow-up are mandatory for their correct differential diagnosis.
authors.affiliation: Paediatric Nephrology and Dialysis Unit, Department of Paediatrics, G. Martino Hospital, University of Messina, Messina. giovanniconti@hotmail.com
authors.forename: Giovanni
authors.initials: G
authors.lastname: Conti
authors.forename: Agata
authors.initials: A
authors.lastname: Vitale
authors.forename: Silvana
authors.initials: S
authors.lastname: Tedeschi
authors.forename: Marie-Louise
authors.initials: ML
authors.lastname: Syrén
authors.forename: Roberta
authors.initials: R
authors.lastname: Pantano
authors.forename: Roberto
authors.initials: R
authors.lastname: Chimenz
authors.forename: Salvatore
authors.initials: S
authors.lastname: Fede
authors.forename: Francesco
authors.initials: F
authors.lastname: La Torre
authors.forename: Domenico
authors.initials: D
authors.lastname: Coviello
authors.forename: Carmelo
authors.initials: C
authors.lastname: Fede
mesh_terms: D001477:Bartter Syndrome / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D002648:Child; D003937:Diagnosis, Differential; D005183:Failure to Thrive / Q000209:etiology*; D005260:Female; D053579:Gitelman Syndrome / Q000150:complications / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D007008:Hypokalemia / Q000503:physiopathology*