Hacettepe University experience: Clinical evaluation of 218 primary ciliary dyskinesia patients

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Introduction: Primary Ciliary Dyskinesia(PCD) is an autosomal-recessive inherited disorder of motile cilia characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility.Diagnosis should be considered with clinical presentation consistent with PCD. The aim of our study was to describe the clinical characteristics, laboratory and radiological findings of a large population of patients with PCD. Method: We analyzed the clinical findings of the 218 patients diagnosed with PCD according to history, clinical, radiological findings, nasal NO, electron microscopy, videmicroscopy results in Hacettepe University Pediatric Pulmonology Department. Results: The mean age of the patients were 12.8(1.4-28 years)years, initial symptoms started meanly 1.7(1 month-14 years) years old.Consanguinity was positive in %75(n=164) of patients and %21(n=46) of patients have a sibling diagnosed with PCD. According to initial symptoms:%56 of patients have neonatal respiratory distress, %69 of patients have rhinitis, %64 of patients have recurrent sinusitis, %33 of patients have recurrent otitis, %36 of patients have asthma, %25 of patients have situs inversus totalis.Mean FEV1 %78, FVC %83, FEV1/FVC %87, FEF25-75 %66 have been found.Sputum microbiology analyses detected %55.5 H.influenza , %17 S.pneumonia , %3.7 P.aeruginosa, %3.2 S.aureus and %2.3 Moraxella catarhalis. Lobectomy has been performed in 26 of the patients. Conclusion: Given the heterogeneity of possible findings associated with PCD, there is no gold standard in diagnosing PCD. A high level of suspicion is required to ensure early diagnosis and start of appropriate management before irreversible lung damage sets in.