How is PCD diagnosed ?
There are currently only two officially recognized ways to make the diagnosis of PCD: A biopsy that evaluates the ultrastructure (internal components) of a cilium and genetic testing. Ultimately, genetic testing will be the best, most reliable method for making the diagnosis, but currently available genetic testing does not pick up all known mutations for PCD. For this reason ciliary biopsy performed at a center trained in techniques to collect, process and analyze cilia for PCD is still the ‘gold standard’ for diagnosis. Nasal nitric oxide (NO—not ‘nitrous’ oxide, but ‘nitric’ oxide) measurement is a good screening test for children over the age of five, but it is not diagnostic. People with PCD have unusually low levels of nasal NO for as yet unknown reasons. However, other conditions can also result in low nasal NO, including cystic fibrosis and some forms of severe sinusitis. For this reason, nasal NO tends to be better at ruling PCD out, than at ruling it in. If a person over the
One might think of PCD in case you have: • chest infections that are not understood like pneumonia/bronchitis • too much coughing/sneezing • a lot of mucus • numerous inflammations of ears and sinuses • medicine like penicillin does not seem to work very well If you find the above symptoms within your next of kin and/or you suffer infertility then PCD might be your problem. A further problem often associated with PCD is the so-called “situs inversus” which is a left-right mirroring of the interior in the chest and/or abdominal cavity (your heart is positioned right instead of left). This is the Kartagener Syndrome. An investigation of the mucus transport and cilia is necessary. If the transport is badly performing and the cilia behave abnormal then a further investigation is needed with respect to the cilia. If, using an electron microscope, the cilia show an abnormal structure then PCD is the diagnosis.
