Hypokalaemia and failure to thrive: report of a misleading onset.
J Paediatr Child Health
; 46(5): 276-7, 2010 May.
Article
em En
| MEDLINE
| ID: mdl-20412406
ABSTRACT
AIM:
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.CONCLUSION:
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Gitelman
/
Insuficiência de Crescimento
/
Hipopotassemia
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article