Pulmonary Radioaerosol Mucociliary Clearance in Diagnosis of Primary Ciliary Dyskinesia

摘要

Background: Methods relying on nasal ciliary motility for the diagnosis of primary ciliaryndyskinesia (PCD) are often hampered by secondary ciliary dyskinesia. A functional test fornpulmonary mucociliary clearance, which is not influenced by secondary nasal ciliary defectsnwould be a valuable tool in a PCD workup.nMethods: The diagnostic validity and repeatability of a pulmonary radioaerosol mucociliarynclearance (PRMC) test for the diagnosis of PCD was assessed in the following three sequentiallynperformed substudies: (1) a preliminary cross-sectional study of PRMC in patients with knownnPCD; (2) a prospective blinded trial of patients referred for suspicion of PCD; and (3) annimplementation study of PRMC as a routine method used in a PCD workup. PRMC was studiednafter 99mTc-albumin colloid aerosol inhalation, and the results were compared to (1) the resultnof nasal ciliary motility studies, (2) ciliary ultrastructure, and (3) the final clinical diagnosis. Thenrepeatability of PRMC was assessed in 14 patients.nResults: A total of 95 patients, 5 to 74 years of age, were included in the study (57 patients innwhom PCD was diagnosed, 26 non-PCD patients, and 12 patients referred for PCD workupnwithout a conclusive workup result). In substudy 1, 14 of 15 patients with known PCD showednimpaired PRMC; the results were inconclusive in 1 patient. In substudy 2, among 59 patientnreferred for PCD workup PRMC test results, compared to nasal ciliary motility, showed ansensitivity of 88% and a specificity of 100%. In substudy 3, among 21 patients referred for PCDninvestigation who were included in a routine PCD workup after PRMC implementation, 71% onPRMC test results were in alignment with nasal ciliary motility. Repeatability of interpretationnwas seen in 13 of 14 cases. A conclusive PRMC after only one test was found in 81 of 95 patientn(85%).nConclusion: PRMC is a noninvasive functional test for total tracheobronchial mucociliarynclearance with a high sensitivity and specificity for PCD, a high rate of conclusive results afternonly one test and a further ability to separate PCD from focal pulmonary mucociliary defects.