Gitelman syndrome: novel mutation and long-term follow-up.
Clin Exp Nephrol
; 16(2): 306-9, 2012 Apr.
Article
em En
| MEDLINE
| ID: mdl-21964762
ABSTRACT
We report a case of Gitelman syndrome presenting with fatigue, paresthesias, weakness of limbs and neck muscles since 2.5 years of age. Investigations showed hypokalemia and hypomagnesemia with urinary magnesium wasting. Genetic analysis revealed the presence of a novel homozygous mutation in the SLC12A3 gene (c.2879_2883+9ins14bp, p.Val 960 Glu fsx12). Management with potassium and magnesium supplements and spironolactone resulted in a significant improvement in symptoms. Over a follow-up of 11 years, the patient showed satisfactory growth and physical development.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Receptores de Droga
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Simportadores
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Síndrome de Gitelman
/
Hipopotassemia
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Prognostic_studies
Limite:
Child
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Female
/
Humans
Idioma:
En
Revista:
Clin Exp Nephrol
Assunto da revista:
NEFROLOGIA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Índia