Mechanisms of Type I and Type II Pseudohypoaldosteronism: Figure 1.

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Mechanisms of type I and type II pseudohypoaldosteronism.

Pseudohypoaldosteronism (PHA) types I and II are curious genetic disorders that share hyperkalemia as a predominant finding. Together they have become windows to understanding new molecular physiology in the kidney. Autosomal recessive PHAI results from mutations in the epithelial sodium channel (ENaC), whereas autosomal dominant PHAI is characterized by mutations in the mineralocorticoid recep...

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Pseudohypoaldosteronism (PHA) is a rare heterogeneous syndrome of mineralocorticoid resistance causing insufficient potassium and hydrogen secretion. PHA type 1 (PHA1) causes neonatal salt loss, failure to thrive, dehydration and circulatory shock. Two different forms of PHA1 can be distinguished on the clinical and genetic level, showing either a systemic or a renal form of mineralocorticoid r...

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ژورنال

عنوان ژورنال: Journal of the American Society of Nephrology

سال: 2010

ISSN: 1046-6673,1533-3450

DOI: 10.1681/asn.2010050457