Primary Ciliary Dyskinesia (PCD)

Primary Ciliary Dyskinesia (PCD) is a rare genetic disease causing chronic cough, recurrent pneumonias, repeat ear infections, and chronic nasal congestion or sinusitis. Many children with PCD also have difficulty breathing despite a normal birth at term, with collapse of portions of their lungs on chest x-ray, which is often misdiagnosed as neonatal pneumonia. Most of these babies require weeks of supplemental oxygen therapy and prolonged stays in the neonatal intensive care unit for difficulty breathing.

At least 50% of PCD patients also have reversal or misplacement of their internal organs (known as situs inversus or situs ambiguus), sometimes in combination with congenital heart defects.

PCD is very difficult to diagnose, as clinical symptoms overlap with many other common respiratory conditions (including recurrent viral illnesses).  Furthermore, the current clinical tests for PCD are difficult to perform correctly outside of highly experienced PCD centers.

With early diagnosis and therapy, PCD patients can live normal lives while insuring their lungs are protected through long-term pulmonary monitoring and regular clinical assessments.

The Montreal Children's Hospital has created the first and only PCD clinic in Quebec. This multi-disciplinary clinic consists of PCD physician experts, physiotherapists, and otolaryngologists, who manage this complex disease together.  The MCH PCD clinic offers state of the art PCD clinical testing through specialized testing and equipment, including nasal nitric oxide measurement, electron microscopy assessment, and extended genetic testing.  

Nasal nitric oxide measurement is a rapid, non-invasive, and painless test which can support a diagnosis of PCD.  This clinic has the only functioning chemiluminescence nitric oxide analyzer in Quebec, which is a valuable resource for patients, as it can limit the need for other invasive and expensive tests.

• For more information on PCD: http://www.pcdfoundation.org/
• A large PCD research consortium with centers throughout North America: http://www.rarediseasesnetwork.org/gdmcc/about/

Pediatric and adult patients suspected of having PCD may be referred for a clinical consultation in the PCD clinic.  Those already carrying a diagnosis of PCD from another clinical center are also encouraged to have the diagnosis confirmed through the MCH PCD clinic.

Please direct referrals to: Dr. Adam Shapiro, Pediatric Respiratory Medicine, 514-412-4364 (fax), 514-412-4400, ext. 23088 (phone).