Pseudohypoaldosteronism Type 2

Watchlist

(log in to enable)

Retrieved

2022-04-26

Source

Gard

Trials

—

Genes

KLHL3, WNK4, WNK1, NR3C2, GNAS, STX16, GNAS-AS1, SCNN1A, SCNN1B, SCNN1G, CUL3, SLC12A3, REN, PIEZO2, OSR1, PHA2A, STK24, KCNJ1, CLDN8, RAPGEF5, KLHL2, SLC12A2, STK39, SLC26A4, MUL1, PRKN, CBLL2

Drugs

—

Interested in hearing about new therapies?

Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide.