A mouse model of pseudohypoaldosteronism type  II reveals a novel mechanism of renal tubular acidosis

Pseudohypoaldosteronism type II (PHAII) is a genetic disease characterized by association of hyperkalemia, hyperchloremic metabolic acidosis, hypertension, low renin, and high sensitivity to thiazide diuretics. It is caused by mutations in the WNK1, WNK4, KLHL3 or CUL3 gene. There is strong evidence that excessive sodium chloride reabsorption by the sodium chloride cotransporter NCC in the distal convoluted tubule is involved. WNK4 is expressed not only in distal convoluted tubule cells but also in β−intercalated cells of the cortical collecting duct.

Source: Kidney International - July 7, 2018 Category: Urology & Nephrology Authors: Karen I. L ópez-Cayuqueo, Maria Chavez-Canales, Alexia Pillot, Pascal Houillier, Maximilien Jayat, Jennifer Baraka-Vidot, Francesco Trepiccione, Véronique Baudrie, Cara Büsst, Christelle Soukaseum, Yusuke Kumai, Xavier Jeunemaître, Juliette Hadchouel, Tags: Basic Research Source Type: research