[Pseudohypoaldosteronisme type I: a rare cause of failure to thrive].

Autor: Derache AF; Service de pédiatrie, fédération médicochirurgicale de pédiatrie, centre hospitalier de Roubaix, boulevard Lacordaire, BP 359, 59056 Roubaix cedex 1, France., Rousseau S, Holder-Espinasse M, Bouquillon S, Bresson S, Ythier H, Ganga-Zandzou PS
Jazyk: francouzština
Zdroj: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2012 May; Vol. 19 (5), pp. 488-92. Date of Electronic Publication: 2012 Mar 29.
DOI: 10.1016/j.arcped.2012.02.013
Abstrakt: 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.
(Copyright © 2012 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE