Hypokalaemia and failure to thrive: report of a misleading onset.
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.
Conti
Giovanni
G
Paediatric Nephrology and Dialysis Unit, Department of Paediatrics, G. Martino Hospital, University of Messina, Messina. giovanniconti@hotmail.com
Vitale
Agata
A
Tedeschi
Silvana
S
Syrén
Marie-Louise
ML
Pantano
Roberta
R
Chimenz
Roberto
R
Fede
Salvatore
S
La Torre
Francesco
F
Coviello
Domenico
D
Fede
Carmelo
C
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*