PCD is a rare, genetically heterogeneous, autosomal recessive disorder leading to impaired ciliary clearance from the lower airways, middle ear, and paranasal sinuses, and is associated with mucus retention and chronic infections of the respiratory tract. Children with PCD may mimic children with other common respiratory diseases such as asthma. However, there are specific pediatric phenotypic features that may help to identify those at risk for having PCD. It is important to recognize when a child may have PCD as they are at high risk for the development of irreversible bronchiectasis and other lung disease. There are no disease-specific therapies, but there are treatments that can help to improve morbidity associated with the disease.
- Identify the classic pediatric phenotype in PCD
- Recognize the current diagnostic tools and their limitations
- Understand the rational of treating PCD