Inactivating mutations of the mineralocorticoid receptor in Type I pseudohypoaldosteronism

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 m...

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Veröffentlicht in:	Molecular and cellular endocrinology 2004-03, Vol.217 (1), p.119-125
Hauptverfasser:	Sartorato, P, Khaldi, Y, Lapeyraque, A.-L, Armanini, D, Kuhnle, U, Salomon, R, Caprio, M, Viengchareun, S, Lombès, M, Zennaro, M.-C
Format:	Artikel
Sprache:	eng
Schlagworte:	Aldosterone Aldosterone - blood Exons - genetics Genes, Dominant - genetics Hormone resistance Humans Hypokalemia - genetics Hypokalemia - physiopathology Hyponatremia - genetics Hyponatremia - physiopathology Kidney - physiopathology Mineralocorticoids - metabolism Mutation Nuclear receptors Pedigree Predictive Value of Tests Pseudohypoaldosteronism - blood Pseudohypoaldosteronism - congenital Pseudohypoaldosteronism - genetics Pseudohypoaldosteronism - physiopathology Receptors, Mineralocorticoid - genetics Receptors, Mineralocorticoid - metabolism Renin - blood Salt loss Salts - metabolism Steroids
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