For patients and parents, early clues to diagnosis include respiratory problems that begin at birth or within the first few months of life. Daily (or very frequent) cough is present, often wet-sounding. Drainage from and/or plugging of ears and constant ‘drippy’ nose are common complaints. Noisy breathing and the production of lots of sputum can lead to a misdiagnosis of asthma. Failure to respond to typical asthma treatments is often reported. Recurring bouts of bronchitis or pneumonia, sometimes with unusual organisms causing the infections, are typical.
Many families also report frequent headaches, both sinus-related and non-sinus related, stomach and GI complaints, failure to gain weight and unusual fevers, although these are not known to be specifically relate to PCD at this time.
Official diagnostic criteria are listed here: Adapted From GeneReviews Primary Ciliary Dyskinesia
Making the Diagnosis
The diagnosis of primary ciliary dyskinesia (PCD) requires the presence of one or more of the following:
Chronic sinopulmonary (sinus, ear and lung) disease:
- Chronic cough (often wet sounding) and sputum production
- Chronic wheeze and air trapping
- Obstructive lung disease on lung function tests Persistent colonization with pathogens (bugs that cause infection) not commonly found in healthy individuals, like Pseudomonas aeruginosa, Staphylococcus aureas and Haemophilus influenza
- Chest x-ray or other imaging studies with chronic abnormalities
- Sinus x-ray or other imaging studies with chronic abnormalities
- Chronic otitis media (ear fluid/infection)
- Neonatal respiratory distress (can be mild or very severe)
- Chronic nasal congestion dating from the newborn period
Abnormality in chest and abdominal organ placement, which may manifest as:
- Situs inversus totalis or mirror-image reversal of all internal organs, with all organs typically functioning just fine in their mirror image position, or
- Situs ambiguous, aka ‘heterotaxy’ a condition characterized by the abnormal placement of organs due to failure to establish the normal left-right patterning during embryonic development (Medicinet.com definition). Heterotaxy is often associated with congenital defects of one or more organs and is especially associated with congenital heart defects which may be mild and manageable or complex and severe.
- Digital clubbing - a condition in which the ends of the fingers around the nail beds become swollen and rounded. The nails may take on a shiny, abnormally curved appearance. Here is a picture of digital clubbing in a child with cystic fibrosis:
- Specific ciliary ultrastructural defects identified by transmission electron microscopy or ‘TEM.’ This "gold standard" diagnostic test for primary ciliary dyskinesia requires a biopsy of ciliated airway tissue usually taken by brush sample or scraping of either the nose or the trachea. More information on the biopsy process and challenges with diagnosis in PCD
- Positive Clinical genetic testing for PCD. More information on Genetic Testing for PCD
- In addition, measurement of nasal nitric oxide (NO), while not diagnostic, can be a very useful screening tool in PCD, which is characterized by unusually low levels of nasal NO. More information on Nasal Nitric Oxide in PCD