Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects cilia, which are tiny, hair like structures that line the airways. When there are defects in the structure or function of cilia, mucus and bacteria can stay in the respiratory tract, causing frequent ear, sinus and lung infections.

What are signs and symptoms of PCD?

Children with PCD may experience:

• Chronic cough
• Chronic nasal congestion or sinus infections
• Excess mucus
• Recurrent cold symptoms
• Recurrent middle ear infections
• Recurrent pneumonia
• Respiratory distress (breathing problems) in newborns

How is PCD diagnosed?

PCD can be difficult to diagnose, so children can often go misdiagnosed or undiagnosed. The two approved methods for diagnosing PCD are genetic testing and a biopsy of tissue from the nose or trachea. Screening tools like nasal nitric oxide testing may also be used to determine whether a child may have PCD. Children’s Healthcare of Atlanta is the only center in Georgia to offer nasal nitric oxide testing.

How is PCD treated?

Currently, there is no cure for PCD. However, treatment options are available to help control symptoms of the disorder. Our providers are also active in lung disorder research and can enroll interested patients in relevant clinical studies.

The Children’s Primary Ciliary Dyskinesia Clinic is co-led by Jonathan Popler, MD , and Lokesh Guglani, MD, both pediatric pulmonologists at Children’s who work closely with other specialties, including otolaryngology (ENT), genetics and cardiology, to provide complete multidisciplinary care.

• Allan Dias, MD
  
• Devon Greene, MD, MPH
  
• Lokesh Guglani, MD
• Jonathan Popler, MD

Diaphragm pacing is a unique treatment option to help care for children with congenital central hypoventilation syndrome (CCHS), a rare genetic disorder of the autonomic nervous system. Children’s Healthcare of Atlanta is one of only a few pediatric hospitals in the country to have a program and team dedicated to caring for children with CCHS.

What is congenital central hypoventilation syndrome (CCHS)?

Children with CCHS require lifelong ventilator support because they are unable to control their breathing. The severity of CCHS can vary in children. Some kids require continuous ventilator support, while others only need ventilator support while they sleep.

Home assisted ventilation options include:

• Positive pressure ventilation through a tracheostomy
• Noninvasive positive pressure ventilation
• Diaphragm pacing using phrenic nerve stimulation

What is a diaphragm pacing system?

A diaphragm pacing system is a lightweight, battery-powered electronic device that supports breathing, possibly eliminating the need for a traditional ventilator either part time or full time. It stimulates diaphragm contraction through electrodes that are surgically placed on the phrenic nerves in the neck. The phrenic nerve electrodes are stimulated by a small battery-operated control box (transmitter) that is worn outside the body. When the phrenic nerve electrodes are stimulated by the transmitter, air flows into the lungs through the contraction of the diaphragm.

What are the benefits of diaphragm pacing?

Diaphragm pacing allows children who are dependent on a traditional ventilator full time to be free of positive-pressure ventilation during the day, allowing them mobility. Since the diaphragm pacer device is small, portable and does not require any tubes, it allows children to participate in school and other activities without being attached to the ventilator circuit.

For children who are ventilator dependent only while they sleep, diaphragm pacing may allow removal of their tracheostomy tube.

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

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