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Arch Pediatr ; 19(5): 488-92, 2012 May.
Artigo em Francês | MEDLINE | ID: mdl-22463955

RESUMO

We report on a boy, born on term, presenting with a weight loss and a persistent failure to thrive after 10 days despite a normal behavior under bottle-feeding. The clinical examination was normal and biological assessment revealed hyponatremia with hyponatriuria, normal kaliemia and elevated aldosterone values, leading to type I pseudohypoaldosteronism diagnosis. Treatment with salt supplementation allowed growth improvement. The diagnosis was confirmed by the identification of a mutation in the mineralocorticoid receptor. This change was also found in several family members.


Assuntos
Insuficiência de Crescimento/etiologia , Insuficiência de Crescimento/genética , Pseudo-Hipoaldosteronismo/complicações , Pseudo-Hipoaldosteronismo/genética , Humanos , Recém-Nascido , Masculino , Linhagem
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