New test can help patients with cystic fibrosis

Researchers have developed a simple urine test to measure the severity of the serious disease cystic fibrosis and assess the effect of new treatments.

A newly-developed urine test can make it much easier for doctors to diagnose how badly a patient is affected by the hereditary disease cystic fibrosis, which amongst other things alters the body’s respiratory, digestive and reproductive systems.

The test can also reveal the extent to which the patient’s medical treatment is of benefit. This has been shown by a new study from Aarhus University and Aarhus University Hospital that has just been published in the scientific journal Annals of Internal Medicine.

Cystic fibrosis is caused by mutations in the CFTR gene that code for the ion channel called CFTR. One important function of CFTR is to regulate the production of fluid and mucus in the lungs and digestive fluids in the intestine. Loss of CFTR function leads to thick mucus in the lungs and reduced amounts of digestive fluids. The consequence is inflammations and blockages that damage the organs. CFTR is also expressed in the kidneys where it alters electrolyte handling.

Now, by focusing on the kidneys and the urine, the researchers have developed a simple test, which likely shows how effective the treatment is for the individual patient.

“The goal is for the urine test to be used as a clinical tool to determine both the severity of the genetic dysfunction and the medicine’s restorative effect in individual patients with cystic fibrosis,” says Professor Jens Leipziger of the Department of Biomedicine at Aarhus University, who is one of the main actors behind the study, together with Peder Berg, Consultant Majbritt Jeppesen and Consultant Søren Jensen-Fangel.

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