Cystic fibrosis (CF) is the most common lethal genetic disease in Caucasians with a frequency of ~1 in 2000 new-borns caused by loss of function of the Cystic Fibrosis Transmembrane Regulator gene (CFTR). CFTR is a Cl- channel localized in the apical membrane of glandular tissues like the gastrointestinal tract and the lungs. We have identified the molecular mechanism of CFTR-dependent urine bicarbonate excretion in the collecting duct. CFTR knock-out mice cannot respond to increase their urine bicarbonate excretion following a defined acute oral load. We find a similar phenotype in human CF patients. We have invented a CF urine test that is simple and quantifies the ability to excrete bicarbonate with the urine. This test has solid potential to characterize the degree of functional loss in CF patients. It will allow quantification of drug therapy success and will identify drug non-responders.
I am a trained medical doctor and started my initial career to treat patients with kidney diseases (Nephrology). Fascinated by the biological complexity of this organ, I decided to move into basic biomedical research and therefore specialized in Physiology. In 2001, I established my own independent laboratory at Aarhus University to continue studying the normal and diseased function of the kidney.
The discovery, relevance and application of the Cystic Fibrosis Urine Test
Area of research:
Medicine, Physiology, Nephrology
01 Oct 2019 – 30 Sep 2020