Diagnosis is only made in specialist units, of which there are three nationally funded centres in England at Leicester, Southampton and in London

Diagnosis and acceptance of condition and possible future problems

Diagnosis is only made in specialist units, of which there are three nationally funded centres in England at Leicester, Southampton and in London.

Screening is available, via a non-invasive test measuring the level of nitric oxide [NO] from the nose, for most children greater than 5 years old. Very low levels of nasal NO are very specific for PCD, but the diagnosis can only be confirmed by analyzing the ciliary function and ultrastructure from a nasal brush biopsy.

Abnormal function or defects in the cilia ultrastructure provide a diagnosis in the majority of cases, although in some patients who have clinical PCD it may not yet be possible to confirm the diagnosis in this way. Research is ongoing to develop more advanced techniques to assist in these more difficult to diagnose cases.

All three centres offer testing well within the national 18 week limits, and in most cases can offer an appointment within 4 weeks. Initial screening and ciliary function results are available the same day, but ultrastructural analysis takes about 4-6 weeks from the time of brushing. Most patients will be seen initially by their GP or local hospital doctor, who will then make the referral to one of the diagnostic centres.

For a small number of patients it may be difficult to confirm the diagnosis using current methods of diagnosis. In these situations where the clinical picture is typical and other evidence exists, such as low nasal NO levels or an abnormal ciliary beat pattern, patients should be treated in exactly the same way as confirmed cases.

The advent of genotyping for all PCD gene mutations, advanced electron microscopy techniques and molecular staining will hopefully overcome this diagnostic dilemma for many such cases as well as greatly enhance our knowledge of the underlying disease mechanisms.

Case Study