Severe salt–losing syndrome and hyperkalemia induced by adult nephron–specific knockout of the epithelial sodium channel α-subunit
R Perrier, E Boscardin, S Malsure, C Sergi… - Journal of the …, 2016 - journals.lww.com
Abstract Systemic pseudohypoaldosteronism type 1 (PHA-1) is a severe salt–losing
syndrome caused by loss-of-function mutations of the amiloride–sensitive epithelial sodium
channel (ENaC) and characterized by neonatal life–threatening hypovolemia and
hyperkalemia. The very high plasma aldosterone levels detected under hypovolemic or
hyperkalemic challenge can lead to increased or decreased sodium reabsorption,
respectively, through the Na+/Cl− cotransporter (NCC). However, the role of ENaC …
syndrome caused by loss-of-function mutations of the amiloride–sensitive epithelial sodium
channel (ENaC) and characterized by neonatal life–threatening hypovolemia and
hyperkalemia. The very high plasma aldosterone levels detected under hypovolemic or
hyperkalemic challenge can lead to increased or decreased sodium reabsorption,
respectively, through the Na+/Cl− cotransporter (NCC). However, the role of ENaC …