Overview

pseudohypoaldosteronism


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A disorder marked by salt wasting in infancy despite high levels of aldosterone. Autosomal recessive pseudohypoaldosteronism type I can be caused by mutation in the α, β, or γ subunits of the epithelial sodium channel (ENaC). The autosomal dominant form of type I pseudohypoaldosteronism is caused by mutations in the mineralocorticoid receptor gene. Type II pseudohypoaldosteronism (Gordon hyperkalaemia–hypertension) is a hyperkalaemia that arises despite normal renal glomerular filtration and is caused by a defect in WNK kinases.

Subjects: Medicine and Health.


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