Primary Ciliary Dyskinesia (PCD) Program

The airways that connect the mouth and nose with the lungs are lined with minute, hairlike structures called cilia. As we inhale, we can breathe in dust, bacteria, and other small particles. The cilia move together in wavelike motions to carry mucus containing this foreign matter back toward the mouth, to be coughed or sneezed out of the body.

Some people are born with a genetic condition in which the cilia do not function properly, and are unable to move mucus up and out of the airways. In those with this rare condition, called primary ciliary dyskinesia (PCD), mucus accumulates in the airways and often leads to breathing problems and chronic, debilitating infections of the lungs, sinuses, and ears. Some people who have PCD have breathing problems from the moment of birth.

Because PCD is rare, only a limited number of centers have extensive experience in diagnosing and managing it. Columbia is one of a few centers in the New York area that is an accredited member of the PCDF-Clinical and Research Centers Network (CRCN).

Common Features of PCD

• Respiratory problems in newborns
• Chronic cough, usually present from birth or early infancy
• Excessive production of mucus and recurrent, debilitating lung infections
• Bronchiectasis, a condition when the airways are damaged, causing them to widen and become loose and scarred
• Sinusitus, often severe and from an early age
• Frequent and severe ear congestion/infections, resulting in conductive hearing loss in children
• Abnormalities in abdominal organ placement and structure

The symptoms of PCD often overlap with those of other respiratory diseases, so diagnosing PCD early can be challenging, and many PCD patients are undiagnosed or misdiagnosed. Families may visit multiple specialists as they struggle to find an accurate diagnosis for their child.

Currently recommended diagnostic tests include:

• Genetic testing
• Nasal nitric oxide test
• Immunofluorescent assay
• Biopsy of ciliary sample tissue
• High-speed videomicroscopy

Treatment

To date, there is no single evidence-based treatment for PCD, although research is under way. Current therapeutic approaches include:

• Airway clearance through daily chest physiotherapy
• Daily cardiovascular exercise
• Antibiotics for acute respiratory exacerbations
• Recommended vaccinations per local schedules

Why Columbia?

Our Center is one of the few in the region to provide multidisciplinary care, comprehensive testing, consultation, and treatment for children with PCD.

Comprehensive Testing: NYP/Columbia is one of only a few centers in the New York metropolitan area where a team, led a by pediatric pulmonologist, noninvasively measures and monitors lung function in children of any age. We provide comprehensive, sophisticated, and standardized testing for PCD, including whole genome sequencing, nasal nitric oxide testing, and nasal ciliary biopsy testing under electron microscopy. This testing can provide the critical information needed to choose the most effective treatment and help a child start breathing better as soon as possible.

Member of PCDF Network: NYP/Columbia is an accredited member of the PCDF Clinical and Research Centers Network (CRCN). To become accredited, our Center met stringent criteria for diagnosing PCD, and adheres to the American Thoracic Society Clinical Practice Guidelines.

Multidisciplinary Care: Our PCD Center team includes a range of specialists from pediatric pulmonologists to respiratory therapists. Because PCD often involves other organ systems, the team also collaborates with a range of subspecialists including otorhinolaryngologists, neonatologists, cardiologists, infectious diseases specialists, as well as colleagues in our Adult Pulmonary Center to provide long-term, comprehensive, and holistic care to patients and families.

Clinical Trials: Patients diagnosed with PCD have the option to enroll in the PCD Registry, a multicenter collaborative database of patients with the disease. Enrollment in the registry gives patients access to participate in clinical trials when they open. Patients may also be contacted through the registry for PCD-related research activities.

Our Locations

Currently our team sees children with PCD at NewYork-Presbyterian Morgan Stanley Children’s Hospital/Columbia University Irving Medical Center. Columbia specialists see adult patients with PCD in the adult Pulmonary Medicine Division. Our program streamlines the transition process for adoelscents with PCD to adult care at Columbia.