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.

The Montreal Children's Hospital has created the first and only PCD clinic in Quebec, and we see both pediatric and adult consults when PCD is suspected. This multidisciplinary 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.

• 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 centre are also encouraged to have the diagnosis confirmed through the MCH PCD clinic which will also permit entry into CPD research protocols and therapeutic trials.

Please direct referrals to: Dr. Adam Shapiro, Pediatric Respiratory Medicine, 514-412-4266 (fax), 514-412-4400, ext. 22725 (phone).