The symptoms of PCD emanate in organs where ciliary motility is an important component of normal function. The respiratory tract, where cilia are present from the middle ear to the conducting bronchioles, is universally affected. Upper and lower respiratory tract manifestations are cardinal features of PCD and often present shortly after birth.8,9
Many patients present in the neonatal period with respiratory distress characterized by chest congestion, coughing, tachypnea, and hypoxia; infrequently respiratory failure occurs that is generally attributed to “wet lungs,” neonatal pneumonia, or transient tachypnea of the newborn.9,10
This suggests that cilia play a critical role in clearing fetal lung fluid after birth. If a chest radiograph obtained in the newborn period reveals dextrocardia and/or situs inversus, then PCD should be considered as an explanation of these abnormalities.
Upper respiratory tract problems include chronic year-around nasal drainage that may begin in the first weeks of life, chronic sinusitis, and chronic serous otitis media. If myringotomy tubes are placed, then chronic otorrhea often ensues. These children commonly have associated conductive hearing loss with chronic middle ear effusion and recurrent otitis media.11
Chronic and recurrent sinusitis is a common feature in older children and adults.10
Lower respiratory tract features include chronic productive cough, chronic and recurrent bronchitis, and recurrent pneumonia. They are at a risk to develop bronchiectasis. Situs inversus totalis, a unique feature in Kartagener's triad, occurs in approximately 50% of patients with PCD, but not all patients with dextrocardia and situs inversus will have ciliary dyskinesia. A recent study reported that thoracic and abdominal heterotaxy (situs ambiguous) associated with complex congenital heart disease occurs in about 5% of cases with PCD.12
Unlike cystic fibrosis (CF), steatorrhea and growth failure are not characteristics of PCD.
Diagnosis of PCD is frequently delayed, because the presenting symptoms (rhinitis, otitis media, cough, and recurrent bronchitis) are common in otherwise healthy children without underlying medical problems. The distinguishing symptoms and clinical features of PCD by age groups, listed in , should prompt the clinician to suspect PCD and consider further investigation.
Distinguishing Symptoms and Features of Primary Ciliary Dyskinesia by Age Group
Abnormal physical examination findings frequently encountered in the ears include middle ear fluid, otorrhea, and tympanic membrane scarring or perforation. Abnormalities in the nasal passages include mucosal congestion, edema, mucoid or mucopurulent drainage, and occasionally polyps. Abnormal chest auscultation findings can be variable and may not be present early in life. Some children will have intermittent wheezing, coarse rhonchi, and/or crackles. For those with situs inversus, the heart tones will be heard loudest over the right hemithorax, and the liver edge may be palpable on the left side instead of the right. Digital clubbing may be apparent in older individuals with bronchiectasis, but this occurs less frequently than in patients with CF.
Lung function tests may be normal during early childhood, but many children will have varying degrees of airflow obstruction later in life.10,13,14
Limited longitudinal data in PCD reveals that lung function remains relatively stable in a significant percentage of individuals but can certainly decline over time,13–16
although at a slower rate than it occurs with CF.10
Radiographic abnormalities of PCD include peribronchial thickening, atelectasis, and airtrapping that may eventually lead to bronchiectasis.14,17
These findings typically occur in the middle and lower lobes, which can be a distinguishing feature from CF, where abnormalities tend to be more evident in the upper lobes. Densely opacified segmental or lobar atelectasis with associated bronchiectasis in the middle lobe seems to be a common occurrence in childhood.10
Chronic airway infection begins in early childhood and is believed to be a leading cause of morbidity and mortality in PCD. The most common bacteria isolated in respiratory cultures from children and adolescents with PCD are oropharyngeal flora, nontypeable Haemophilus influenza
, Staphylococcus aureus
, and Streptococcus pneumoniae
. Older patients with more advanced lung disease have a higher incidence of infection with Pseudomonas aeruginosa
and nontuberculous mycobacteria.10