Arch Pediatr. 2012 Mar 28.
Pseudohypoaldosteronisme type I: A rare cause of failure to thrive.
Derache AF, Rousseau S, Holder-Espinasse M, Bouquillon S, Bresson S, Ythier H, Ganga-Zandzou PS.
Source: Service de pédiatrie, fédération médicochirurgicale de pédiatrie, centre hospitalier de Roubaix, boulevard Lacordaire, BP 359, 59056 Roubaix cedex 1, France.
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.
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