New Primary Ciliary Dyskinesia Center at Rainbow First in U.S. to be Site Visited and Fully Approved by the PCD Foundation

Innovations in Pediatrics Winter 2016 - Download PDF

 Benjamin Gaston, MD

Pulmonologists estimate that as many as 20,000 patients in North America have the autosomal recessive condition primary ciliary dyskinesia (PCD), but that fewer than 1,000 of these people have received a definitive diagnosis.

“Diagnosis remains a challenge,” says Benjamin Gaston, MD, Director of the new Primary Ciliary Dyskinesia Center and Division Chief, Pediatric Pulmonology, UH Rainbow Babies & Children’s Hospital; Professor of Pediatrics, Case Western Reserve University School of Medicine. “About 70 percent of PCD patients have a positive genetic test, and that number is getting higher every year. But to make a valid diagnosis requires considering several different factors. We consider the specific clinical phenotype, genetics, nasal nitric oxide measurements and sometimes ciliary structure and function.”

Confounding the diagnostic process are the high false-positive and false-negative rates of ciliary biopsy and the clinical precision required to accurately measure nasal nitric oxide.

“Ciliary biopsy is falsely positive about one-third of the time and falsely negative almost as frequently,” Dr. Gaston says. “In addition, the nasal nitric oxide test must be done exactly properly. There are errors that can occur with the instrument, the flow rate, the calibration and the patient interface. And even when done properly, it can be easily misinterpreted.”

To provide for increased and more reliable diagnosis of PCD, the PCD Foundation has launched a network of approved clinical and research centers across the U.S. The PCD Center at UH Rainbow Babies & Children’s Hospital is the first clinical center to earn the PCD Foundation endorsement. Of note, the new PCD Center at Rainbow is also the only approved center in Ohio.

“You need to have an entire team of people dedicated to PCD, including a dedicated nurse,” Dr. Gaston says. “You need the technology to do nasal nitric oxide testing properly and be within a children’s medical center with an integrated, multidisciplinary team. We’re very pleased our center meets these criteria and has been approved by the PCD Foundation.”

Dr. Gaston says he hopes the new Rainbow center will improve diagnosis and treatment for people with PCD. He encourages pediatricians to refer patients to the new center who have at least two of the following four characteristics:

• Heterotaxy/organ(s) backwards or partly backwards
• Newborn respiratory distress requiring oxygen in a term infant with no other underlying disease
• Chronic nasal congestion beginning in the first year of life
• Chronic cough beginning in the first year of life

Also, patients who’ve received a diagnosis of bronchiectasis should be evaluated using the PCD Center’s nasal nitric oxide test if no definite cause for the bronchiectasis has been identified, Dr. Gaston says.

For more information on the new PCD Center at UH Rainbow Babies & Children’s Hospital, email PedsInnovations@UHhospitals.org.