pseudohypoaldosteronism type 2B
pseudohypoaldosteronism type 2B
An autosomal dominant condition (OMIM:614491) characterised by severe hypertension, hyperkalaemia and sensitivity to thiazide diuretics, which may be due to a chloride shunt in the renal distal tubule.Molecular pathology
Defects in WNK4, which encodes a serine-threonine protein kinase that regulates electrolyte homeostasis, cause pseudohypoaldosteronism type IIB.