Abstract
Primary ciliary dyskinesia (PCD) is inherited in a predominantly autosomal recessive manner with over 45 currently identified causative genes. It is a clinically heterogeneous disorder that results in a chronic wet cough and drainage from the paranasal sinuses, chronic otitis media with hearing impairment as well as male infertility. Approximately 50% of patients have situs inversus totalis. Prior to the development of chronic oto-sino-pulmonary symptoms, neonatal respiratory distress occurs in more than 80% of patients as a result of impaired mucociliary clearance and mucus impaction causing atelectasis and lobar collapse. Diagnosis is often delayed due to overlapping symptoms with other causes of neonatal respiratory distress. A work up for PCD should be initiated in the newborn with compatible clinical features, especially those with respiratory distress, consistent radiographic findings or persistent oxygen requirement and/or organ laterality defects
Highlights
Section of Pediatric Pulmonology, Allergy and Sleep Medicine, Indiana University School of Medicine, Abstract: Primary ciliary dyskinesia (PCD) is inherited in a predominantly autosomal recessive manner with over 45 currently identified causative genes
Mutations in these genes that code for the proteins that make with ciliagenesis, up trafficking ciliary proteins, ciliary function and other cellular of mechathe ciliary of axoneme result in ultrastructural and/or functional abnormalities the cilia resulting in the PCD disorder
Worse lung disease has been reported in patients with genes that result in central apparatus and microtubular disorganization, especially individuals with the CCDC39 or CCDC40 mutations [27] as well as individuals with the CCNO mutation that results in reduced number of cilia on airway epithelial cells [34]
Summary
Respiratory distress develops in about 7% of all newborn infant deliveries [1]. Respiratory distress syndrome (RDS) develops in 1% of all newborn infant deliveries primarily in premature babies due to surfactant deficiency, and its prevalence is inversely associated with gestational age. Neonatal RDS contributes to significant morbidity and mortality and is ranked in the top 10 leading causes of infant mortality. The differential diagnosis for neonatal respiratory distress is broad and includes RDS, transient tachypnoea of the newborn (TTN), neonatal pneumonia, pulmonary air leak such as pneumothorax and pneumomediastinum, pulmonary arterial hypertension, congenital heart disease, interstitial lung diseases such as those due to surfactant protein deficiencies and other non-pulmonary systemic disorders such as neonatal sepsis, hypothermia and metabolic acidosis. Given the long-term complications related to chronic airway inflammation and infection, making the diagnosis in the neonatal period is critical
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