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Pediatric Primary Ciliary Dyskinesia (PCD)

If your primary care physician or pediatric pulmonologist suspects your child might have primary ciliary dyskinesia (PCD), trust UNC Children’s pediatric pulmonary specialists to provide an expert diagnosis and treatment plan. Our diagnostic clinic at N.C. Children’s Hospital is the only one of its kind in North Carolina and one of only three in the eastern United States.

What is Primary Ciliary Dyskinesia?

Primary ciliary dyskinesia is a rare genetic condition that affects the small, hair-like structures (cilia) that move dust, bacteria and other particles out of the airway. If your child has PCD, the cilia don’t move to push particles out, which causes chronic cough, upper respiratory infections and lung damage.

Approximately half of children with PCD also have situs inversus, a condition in which some or all internal organs are on the opposite side of the body compared with their usual position.

Symptoms of Primary Ciliary Dyskinesia

Your physician may recommend diagnostic tests if your child shows symptoms of PCD. Common symptoms include:

  • Chronic cough
  • Difficulty clearing mucus
  • Excess mucus
  • Hearing loss
  • Lack of response to common antibiotics when treating infections
  • Middle ear infections
  • Newborn respiratory distress
  • Recurring cold symptoms, including coughing and sneezing
  • Recurring pneumonia, bronchitis and other lung infections
  • Severe sinus infections

Experts in Detecting PCD

The PCD Foundation estimates that up 90 percent of people with PCD are mistakenly diagnosed with a different condition. Trust UNC Children’s experienced team to expertly test and correctly diagnose your child’s medical condition, so you can get the right care to help your child feel his or her best. We evaluate 30 to 50 children for this rare disorder each year.

Comprehensive Diagnosis

Your child’s evaluation team will include Margaret Leigh, MD, a Board-certified pediatric pulmonologist specialized in diagnosing and treating children with PCD. The evaluation will include:

  • Review of your child’s medical history
  • Physical examination
  • Nasal nitric oxide test – Measures the level of nitric oxide gas in exhaled breath
  • Lung function tests – Assesses how much air your child can breathe in and out, how fast s/he can breathe and how well the lungs deliver oxygen to the blood
  • Nasal scrape ciliary biopsy – Examines how well the cilia function
  • Genetic test – Looks for gene mutations common in children with PCD

Your child will get a preliminary diagnosis before you leave the clinic. This ensures you can begin treatment and keep your child in his or her best health. We’ll follow up with a confirmed diagnosis once we get all the results of your child’s laboratory tests.

Helping Families Understand PCD

During your initial clinic visit, you’ll learn about the diagnostic process, what PCD is, and what its progression involves. You’ll also discuss available treatment options, so you can make informed decisions about your child’s care.

Treating Primary Ciliary Dyskinesia

  • If your child is diagnosed with PCD, count on our skilled pediatric pulmonologists and other pediatric specialists to create a personalized treatment plan to manage your child symptoms and keep him or her active and healthy. Your child’s plan may include:
  • Airway clearance therapies – Prevent mucus buildup
  • Medications – Prevent and/or treat symptoms, including infections
  • Regular checkups to control and treat lung, sinus and ear infections

Leading the Search for New Treatments

Your child will benefit from treatment by physicians actively involved in research to find the best therapies and diagnostic tests for primary ciliary dyskinesia. Learn more about clinical trials and read about our current research studies.

Transition to Adult Care

When your child reaches adulthood, you can rest assured s/he will continue to get advanced treatment for PCD at UNC Medical Center’s Pleural Disease Clinic and UNC Pulmonary Specialty Clinic at Meadowmont.

Find Family-Centered Care at UNC

At UNC Children’s and N.C. Children’s Hospital, you’ll find friendly, compassionate staff who are experts at working with children and families. We’ll do our best to ease your anxiety, help you understand your child’s medical condition so you can make informed choices about their care, and offer whatever additional support you need. You can help make your experience go as smoothly as possible by exploring our patients and visitors section to learn about:

Schedule an Appointment

You’ll need a physician’s referral for first-time PCD diagnostic care. We do not require a referral for second opinions. For more information, talk to your doctor, or call us at 919-843-3253.

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