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Arquivos de Medicina
On-line version ISSN 2183-2447
Abstract
MIRANDA, Margarida and FONTOURA, Manuel. Type I pseudohypoaldosteronism in children. Arq Med [online]. 2013, vol.27, n.6, pp.265-271. ISSN 2183-2447.
The type I Pseudohypoaldosteronism is a rare syndrome of mineralocorticoid resistance which is characterized clinically by vomiting, dehydration and failure to thrive throughout the neonatal period. Patients present hyponatremia, hyperkalemia and metabolic acidosis associated with high levels of aldosterone and renin in the plasma. The type I Pseudohypoaldosteronism is due to mutations that inactivate the genes coding for the epithelial sodium channel in the autosomal recessive (systemic) form and for the mineralocorticoid receptor gene in the autosomal dominant (renal) form and sporadic cases of the disease. There is another form of secondary type I Pseudohypoaldosteronism usually caused by malformations and / or urinary tract infections. This article presents a wide genomic and phenotypic heterogeneity in the several forms of the disease. Owing to the rarity of the disease, an analysis of genotype-phenotype correlation is usually required for a correct diagnosis. This disease requires a better understanding of its physiological and genetic aspects not only for the improvement of the treatment but also for a better understanding of the hydroelectrolytic regulation.
Keywords : Pseudohypoaldosteronism type 1; aldosterone; mineralocorticoid receptor; epithelial sodium channel.