Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetic condition that causes impaired mucociliary clearance due to poorly functioning cilia. PCD is one disease manifestation of the many recently recognized associations with ciliary malfunction, referred to as ''ciliopathies.'' Manifestations of PCD commonly begin in the neonatal period with cough, pneumonia, and chronic ear infections or effusions. Approximately half of the affected individuals have situs inversus totalis. The diagnosis is often made in later childhood or early adulthood, because symptoms mimic more common childhood illnesses and because the definitive diagnosis of PCD can be challenging. Treatment recommendations are largely based on therapies used for other conditions with impaired mucociliary clearance in the absence of evidence-based research specific for PCD. Early recognition and initiation of both otolaryngologic and pulmonary management might reduce potential long-term morbidities. The purpose of this article is to update primary care providers, allergists, and pediatric pulmonologists on recent advances in this interesting condition.

Primary Ciliary Dyskinesia in Six Patients with Bronchiectasis

“…Also there are overlaps in the clinical presentations of the main differential diagnosis of PCD, including immunodeficiency disorders, CF, asthma and anatomic defects [11]. Presenting symptoms at early stages such as rhinitis, otitis media, cough and dyspnea, sinusitis and bronchitis are also common in healthy children without underlying medical problems [12]. In adolescence, the upper respiratory tract symptoms continue with the same organs involvements, but male infertility is revealed by investigations in 50% of cases [13], as in 2 adults in this report.…”

“…Otoscopy must be performed, and audiometery is also requested as needed. The treatment approach during supervision is aggressive antibiotic therapy, regular clearance of airways with physiotherapy and regular washing of nasopharynx with saline, immunizations against pneumococcal polysaccharide vaccine and annual influenza vaccinations [12].…”

“…It is suggested that respiratory investigations should be performed twice year for adults, and every 2−3 months for children with PCD [12].…”

Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy

“…PCD is caused by an abnormal structure and/or function of the epithelial cell cilia and sperm tails. In the respiratory system, this anomalyimpairs mucociliary clearance and leads to recurrent infections of the upper and lower airways in the first months of life 3 . The PCD diagnosis requires an expensive infrastructure and an experienced team of clinicians and scientists.…”

“…The correspondence between genetic mutation and cytological abnormalities was demonstrated, while the link between genetic analysis and clinical phenotype was more difficult to establish 3,21,22 . A French retrospective study conducted among 60 children with PCD highlighted the relationship between the severity of clinical presentation and the ultra-structural ciliary defect.…”