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- W1969618010 endingPage "215" @default.
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- W1969618010 abstract "Aldosterone plays an essential role in the maintenance of fluid and electrolyte homeostasis in the distal nephron. Loss-of-function mutations in two key components of the aldosterone response, the mineralocorticoid receptor and the epithelial sodium channel ENaC, lead to type 1 pseudohypoaldosteronism (PHA1), a rare genetic disease of aldosterone resistance characterized by salt wasting, dehydration, failure to thrive, hyperkalemia and metabolic acidosis. This review describes the clinical, biological and genetic characteristics of the different forms of PHA1 and highlights recent advances in the understanding of the pathogenesis of the disease. We will also discuss genotype–phenotype correlations and new clinical and genetic entities that may prove relevant for patient’s care in neonates with renal salt losing syndromes and/or failure to thrive." @default.
- W1969618010 created "2016-06-24" @default.
- W1969618010 creator A5038677925 @default.
- W1969618010 creator A5068164050 @default.
- W1969618010 creator A5086172052 @default.
- W1969618010 date "2012-03-01" @default.
- W1969618010 modified "2023-10-17" @default.
- W1969618010 title "Aldosterone resistance: Structural and functional considerations and new perspectives" @default.
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