OC36 - Diagnostic approach of primary cilia dyskinesia: Greek experience

Abstract

UNLABELLED: Theme: Complex health care and chronic disease management. INTRODUCTION: Primary Cilia Dyskinesia (PCD) is a rare, genetically heterogeneous disease that causes chronic pulmonary inflammation and progressive loss of lung function due to the dysfunction of cilia. AIM: To present the Greek experience in development and implementation of standardized operational procedures (SOP) in diagnostic testing of PCD. METHODS: After special training, SOP consisting of nasal NO (nNO) measurement, high speed videomicroscopy (HVM), transmission electron microscopy (TEM) and shipment of the sample for high resolution immunofluorescence (IF) microscopy in difficult cases, were applied. RESULTS: From September 2014 until December 2015 197 tests were performed to 147 suspected patients. 17 patients were finally diagnosed with PCD. CONCLUSIONS: PCD is a rare disease that can be diagnosed through SOP. Early diagnosis and appropriate treatment of PCD will reduce not only the morbidity and mortality to patients, but also the burden of healthcare costs.