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Pediatric Primary Ciliary Dyskinesia

The Nation’s First Fully Accredited Primary Ciliary Dyskinesia Center

University Hospitals Rainbow Babies & Children’s Hospital has the first Primary Ciliary Dyskinesia (PCD) Center in the U.S. to be fully accredited by the Primary Ciliary Dyskinesia Foundation - and the only approved PCD center in Ohio. We offer a full range of advanced testing capabilities for both children and adults to help ensure those who have PCD are accurately diagnosed and can receive the treatment they need. Additionally, we offer our patients access to some of our latest research and clinical trials, hoping to create new hope for patients and families living with a PCD diagnosis.

Accurate and Early Diagnosis of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the function of cilia, the tiny structures that line the airways, ears, sinuses and other organs. The cilia keep those areas clean, free from infection and functioning normally.

PCD, which can lead to frequent respiratory infections and permanent damage to the lungs and respiratory system, affects an estimated 25,000 people in the U.S. However, fewer than 1,000 people know that they have it. That is why coming to a center with expertise in diagnosing this rare genetic disorder is so important.

Early diagnosis of primary ciliary dyskinesia in children is crucial so patients can receive the treatment they need before lungs deteriorate. PCD can often be confused with asthma or chronic bronchitis, making it even more difficult to identify. Because PCD is underdiagnosed, children should be tested if they have two or more of the following characteristics:

  • Heterotaxy, a birth defect where the organs are located on the opposite side of the body from their usual location
  • Newborn respiratory distress and oxygen requirement without a clear reason
  • Daily runny nose since the first year of life
  • Daily “wet” cough since the first year of life

Additional symptoms can include chronic wheezing, shortness of breath, excess mucus, recurring middle ear infections and recurring chest colds.

Specialized Diagnostic Testing for PCD

There are several ways to test for PCD. We are the only center in Ohio to offer nasal nitric oxide measurement, a highly accurate diagnostic test for PCD. It measures the level of nitric oxide gas in a breath sample. Nitric oxide is produced in the lungs to fight inflammation. High levels indicate the airways are inflamed, a sign of PCD. The nitric oxide sample is collected through a mouthpiece into which the patient or child exhales.

In addition to nitric oxide measurement, specialized diagnostic PCD tests we provide include:

  • Ciliary biopsy with electron microscopy and cell culture
  • Genetic testing for PCD
  • Full range of other pulmonology/ENT tests as needed, including:
    • Lung function test
    • Bronchoscopy
    • Specialized ear and sinus testing
    • Genetic evaluation
  • Respiratory therapy support

Our experts have specialized training in interpreting the results of these tests. From there, we develop a comprehensive and individualized treatment plan for each patient.

Effective PCD Management for Better Quality of Life

There is no cure for PCD. However, primary ciliary dyskinesia symptoms can be managed and controlled. Many children diagnosed with PCD lead very normal lives. However, some patients may acquire more serious lung issues as they grow into young adults. We take a comprehensive, multidisciplinary approach to treatment and disease management so we are watchful of any potential issues. We care for all our PCD patients in a proactive, personalized way. It’s our primary goal to slow the decline of lung function, so the lungs can perform optimally for as long as possible into adulthood.

Our team of PCD specialists includes:

  • Pediatric and adult pulmonologists
  • Pediatric cardiologists
  • Pediatric ENT specialists
  • Pediatric geneticists
  • Neonatologists
  • Nurses with PCD expertise
  • Pathologists
  • Respiratory therapists

To maintain airway health and treat lung and airway conditions, there are several treatment options available. PCD management is similar to the therapies used for cystic fibrosis. We prevent progressive and advanced lung diseases using antibiotics and steroids, as well as airway clearance therapy. With regular and ongoing care visits, we can monitor airway health and avoid potential complications. We use sophisticated technology and techniques, like bronchoscopy, using a scope to see inside the airways, and advanced imaging.

As part of our comprehensive health system, we provide lifelong care to our patients with PCD. We collaborate regularly with the adult medical pulmonology team and provide a smooth transition of care when patients move from pediatric to adult care.

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