Article
Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism.
Molecular and cellular endocrinology - 31 Mar 2004
Sartorato P, Khaldi Y, Lapeyraque A-L, Armanini D, Kuhnle U, Salomon R, Caprio M, Viengchareun S, Lombès M, Zennaro M-C
Abstract excerpt
Type I pseudohypoaldosteronism (PHA1) is a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Typical biochemical features include high levels of plasma aldosterone and renin, hyponatremia and hyperkalemia. Different mutations of the human mineralocorticoid receptor (hMR) gene have been identified in subjects affected by the autosomal dominant or sporadic...
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