Diagnosis

Early diagnosis is very important in order that appropriate daily chest physiotherapy and, where necessary, antibiotic treatment can be established. This helps to prevent lung damage occurring by keeping airways clear of infected mucus.

A doctor who is aware of the syndrome can suspect the diagnosis, but confirmation requires a test which may be nasal brushing.

There are three centres that offer a diagnostic service, the Royal Brompton Hospital in London, the Leicester Royal Infirmary and Southampton General Hospital. A nasal brushing biopsy is undertaken and then examined under an electron microscope. This is a very specialised process and the results often take a number of weeks to be reported back to you.

There is a simple screening test for adults and older children called a saccharin test.