The Archbishop Makarios III hospital is the national tertiary referral center for pediatric patients. The Pediatric Pulmonology clinic of Archbishop Makarios III hospital along with the Respiratory Physiology Laboratory of the University of Cyprus Medical School and the Department of Electron Microscopy and Molecular Pathology of Cyprus International Institute of Neurology (CING) serves as the national referral center for adults and pediatric patients suspected for Primary Ciliary Dyskinesia (PCD).
Upon referral, patients are informed by the clinician regarding the necessary diagnostic procedures required for confirmation of a PCD diagnosis and a detailed medical history is obtained. Following, clinical examination and exclusion of other more probable diagnoses, the suspect patient undergoes PCD diagnostic testing which involves measurement of nasal nitric oxide measurements followed by nasal brushing. Tissue collected through nasal brushing is send to the Respiratory Physiology Laboratory for ciliary motility assessment (High Speed Video Microscopy – HSVM) and to CING) for ciliary ultrastructural assessment (Transmission Electron Microscopy – TEM) and. In addition, a blood sample is collected by the nursing personnel of the pediatric pulmonology clinic which is also send to CING for genetic testing.
PCD diagnostic testing usually requires 3-4 weeks to be completed. In case of borderline diagnostic test results, repeat nasal brushing may be required and in case of repeatedly ambiguous results on ciliary motility or ultrastructural assessment, a collaboration pathway with other diagnostic centers from abroad is in place and second opinion is often sought.
Nasal Nitric Oxide measurement
Children and adults diagnosed with PCD depending on severity of clinical manifestations, are followed up at intervals of 1-6 months by the Pediatric pulmonology clinic of Makarios III hospital. Clinical management involves clinical evaluation/examination, assessment of lung function and exacerbation status as well as assessment of sputum microbiology. Patients are always referred to the physiotherapy department for respiratory physiotherapy evaluation. Patients are trained to implement appropriate physiotherapy techniques at home for daily mucus clearance as a maintenance measure of their respiratory wellbeing and reduction of treatment burden. The implemented physiotherapy techniques by the patients are reviewed at least annually by the physiotherapist. Acute exacerbations are treated with antibiotics (either oral or IV) according to sputum microbiology results, intensification of chest physiotherapy and if needed with inhaled bronchodilators and corticosteroids.
Patients with severe/frequent chest exacerbations may be prescribed with prophylactic antibiotics such as azithromycin on three days/week and if chronically colonized with pseudomonas also with nebulized colistin or tobramycin. For occasional recovery of pseudomonas in the sputum microbiology we follow an eradication protocol with systematic anti-pseudomonas antibiotics for 2-3 weeks (most commonly ciprofloxacin) followed by 3 months of nebulized colistin or tobramycin.
Patients with nutritional or growth deficiencies are also referred to the in-house nutritionist. Access to psychological and social support is also provided to patients dealing with frustration, fertility issues. During hospitalizations for iv treatments, Archbishop Makarios III hospital provides in house school services when required.
INFORMATION FOR PATIENTS
Primary Ciliary Dyskinesia (PCD) is a rare, genetically heterogeneous disorder which results from the dysfunction of small hair-like organelles, called motile cilia. Motile cilia project from the apical side of epithelial cells that line up the upper and lower airways (respiratory cilia) and can be found in a variety of other tissues. PCD patients usually suffer from recurrent respiratory infections which lead to chronic destructive airway disease characterized by progressive loss of lung function and structural damage of the airways (bronchiectasis).