Functional tests to guide management in an adult with loss of function of type-1 angiotensin II receptor.

Daan H H M VieringAnneke P BechJeroen H F de BaaijEric J SteenbergenAlexander H J Danser Jack F M Wetzels René J M Bindels Jaap Deinum

Published in: Pediatric nephrology (Berlin, Germany) (2021)

This report provides living proof that even truncating loss-of-function mutations in AGTR1 are compatible with life and relatively good GFR and provides evidence for the prescription of fludrocortisone to treat hyperkalemia and salt-wasting in such patients.

Keyphrases

angiotensin ii
end stage renal disease
ejection fraction
angiotensin converting enzyme
chronic kidney disease
vascular smooth muscle cells
prognostic factors
peritoneal dialysis
patient reported outcomes
binding protein