Primary Ciliary Dyskinesia

Primary ciliary dyskinesia is a rare genetic disorder that affects the structure and function of the cilia, which are tiny, hair-like structures that line the airways, sinus and ear canals. Cilia help move cells throughout the body, and play an important role in moving particles, mucus and fluids from a child’s airways. When cilia in lungs are not working as they should, mucus and bacteria can build up in the respiratory tract and ear canals, resulting in frequent ear, sinus and respiratory tract infections. Frequent or severe infections from poor cilia function can damage the airways, resulting in severe breathing problems and hearing loss.

Primary Ciliary Dyskinesia Symptoms:

• Breathing problems in newborns
• Respiratory distress
• Chronic coughing and nasal congestion
• Chronic sinus infections
• Recurrent cold symptoms
• Recurrent middle ear infections
• Recurrent pneumonia

At Children’s we understand that children with primary ciliary dyskinesia need high-quality, specialized care, and offer close monitoring, educational support and treatment for patients from birth to age 21. One of just a few pediatric hospitals in the country and the only one in Georgia to offer specialized care for primary ciliary dyskinesia, we are dedicated to helping children live healthy lives. Our program is recognized as a PCD Foundation Clinical Center, a distinction that recognizes facilities with expertise in diagnosing, treating and managing PCD.

• Multidisciplinary Treatment: At Children’s, we understand that children with primary ciliary dyskinesia need high-quality, specialized care, and bring together a team of pediatric-trained pulmonologists, otolaryngologists, genetic counselors, cardiologists, nutritionists, social workers and other specialists. We deliver coordinated care at each stage of treatment, ensuring continuity, guidance and the support needed to navigate each phase with confidence.
• Nationally Ranked Care: As Georgia’s only nationally ranked program for pulmonology and lung surgery, your child will have access to highly skilled pulmonologists, advanced practice providers, respiratory therapists and other specialists, close to home.
• Innovative Research: As a leader in pulmonology research, we are committed to seeking new, innovative ways to diagnose, treat and manage primary ciliary dyskinesia.

Because symptoms of primary ciliary dyskinesia are similar to those of other respiratory conditions, it can be difficult to diagnose, and many children go undiagnosed or misdiagnosed.

Tests to diagnose primary ciliary dyskinesia can include:

• Biopsy: Your child’s doctor may take a sample of cilia from your child’s airway and look at it using a transmission electron microscope, an advanced microscope that helps visualize even the smallest structures. 
• Nasal nitric oxide testing: This test measures the level of a gas called nitric oxide when your child breathes out. Children’s is the only hospital in Georgia of offer nasal nitric oxide testing.
• Genetic testing: Our physicians will work with you to gather a detailed family history and identify genes that are associated with primary ciliary dyskinesia. 

While there is no cure for primary ciliary dyskinesia, treatment is available to control the symptoms of the disease. Your child may need regular visits with pulmonologists and ENT specialists to help keep their lungs and airways healthy.

Treatments may include:

• Airway clearance.
• ENT and audiology care.
• Exercise.
• Hearing tests
• Medicines, such as antibiotics and steroids for ear, sinus and respiratory infections.
• Nasal/sinus surgery
• Ongoing surveillance.
• Regular pulmonary function tests.
• Respiratory cultures. 
• Routine airway screening.
• Saline nasal washes.
• Vaccination

Prognosis of Primary Ciliary Dyskinesia

If your child has primary ciliary dyskinesia, they may need regular visits with pulmonologists and ENT specialists to help keep their lungs and airways healthy. At Children’s, we follow patients until 21 years of age before referring them to an adult pulmonologist to help ensure their long-term health. 

The Children’s Primary Ciliary Dyskinesia Clinic is led by Jonathan Popler, MD and Lokesh Guglani, MD, both pediatric pulmonologists.

• Allan Dias, MD
• Mary Ellen Fain, MD
• Lokesh Guglani, MD
• Jonathan Popler, MD
• Snehal Vala, MD

The Primary Ciliary Dyskinesia Clinic is held at the Center for Advanced Pediatrics.

Center for Advanced Pediatrics
2174 North Druid Hills Road NE
5th Floor
Atlanta, GA 30329