pseudohypoaldosteronism การใช้

Mutations that decrease the activity of ENaC result in multisystem pseudohypoaldosteronism, that is associated with fertility problems.
Their analyses showed that the phenotypic variations in the severity of pseudohypoaldosteronism are associated with the types of genetic mutations.
Muatations in this gene cause pseudohypoaldosteronism type IID ( PHA2D ); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis.
The disease most commonly associated with mutations in SCNN1A is the multi-system form of type I pseudohypoaldosteronism ( PHA1B ) that was first characterized by A . Hanukoglu as an autosomal recessive disease.
In his clinical work as an endocrinologist, Israel's senior brother, Prof . Aaron Hanukoglu ( Tel Aviv University, Sackler Medical School and E . Wolfson Medical Center ), identified that a hereditary disease named pseudohypoaldosteronism type I encompasses two independent syndromes.