hrp0095lb10 | Late Breaking | ESPE2022

Novel CUL3 Variant in Pseudohypoaldosteronism Type 2

Turan Ihsan , Damla Kotan Leman , Atmis Bahriye , Karabay Bayazit Aysun , Yuksel Bilgin

Introduction: Pseudohypoaldosteronism type II (PHA II) is an extremely rare disorder characterized by low plasma renin and aldosterone when a normal renal function with hypertension, hyperkalemia, and hyperchloremic metabolic acidosis. PHA II is also known as familial hyperkalemic hypertension or Gordon’s syndrome and is an inherited autosomal dominant. PHA II could be caused by pathogenic variants of WNK1, WNK4, KLHL3, and <em...