Structural and Functional Lung Impairment in Primary Ciliary Dyskinesia. Assessment with Magnetic Resonance Imaging and Multiple Breath Washout in Comparison to Spirometry
Sylvia Nyilas, Grzegorz Bauman, Orso Pusterla, Gregor Sommer, Florian Singer, Enno Stranzinger, Christoph Heyer, Kathryn Ramsey, Anne Schlegtendal, Stefanie Benzrath, Carmen Casaulta, Myrofora Goutaki
(+4 others)
2018
Annals of the American Thoracic Society
RATIONALE Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by heterogeneous airway disease. Traditional lung function techniques (e.g. spirometry) may underestimate severity and complexity of PCD. OBJECTIVES We assessed lung impairment in individuals with PCD using structural and functional magnetic resonance imaging (MRI) and different lung function techniques. METHODS Thirty study participants with PCD (median 13.4 years, range 5-28) underwent structural and functional
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... RI, spirometry, and multiple breath washout (MBW) on the same day. Primary endpoints included structural MRI morphology scores, relative ventilation and perfusion impairment from functional MRI, FEV1 from spirometry, and lung clearance index (LCI) from MBW. RESULTS Severity and complexity of PCD lung disease varied significantly between individuals. Structural lung disease was detected in all subjects with a median (IQR) extent score of 10.3 (7 to 19; maximum score = 60). Functional MRI ventilation impairment was present in 52% of subjects affecting 24.2% (21.1 to 25.2%) of the lung. Relative perfusion impairment was detected in 78% of individuals affecting 21.1% (19.4 to 25.9%) of the lung. LCI was abnormal in 83% (median 8.3 (2.6 to 13.2) z-scores) and FEV1 was abnormal in 27% (-0.5 (-1.6 to 0.3) z-scores) of individuals. Concordance between spirometry and imaging outcomes was poor, with 52% of patients showing both abnormal MRI and LCI values, but normal FEV1. CON-CLUSIONS Discordance between lung function and imaging outcomes in patients with PCD supports the use of both imaging and lung function, such as MBW, for surveillance of this heterogeneous disease. Abstract Rationale: Primary ciliary dyskinesia (PCD) is an inherited disorder characterized by heterogeneous airway disease. Traditional lung function techniques (e.g. spirometry) may underestimate severity and complexity of PCD. Objectives: We assessed lung impairment in individuals with PCD using structural and functional magnetic resonance imaging (MRI) and different lung function techniques. Methods: Thirty study participants with PCD (median 13.4 years, range 5-28) underwent structural and functional MRI, spirometry, and multiple breath washout (MBW) on the same day. Primary endpoints included structural MRI morphology scores, relative ventilation and perfusion impairment from functional MRI, FEV 1 from spirometry, and lung clearance index (LCI) from MBW. Results: Severity and complexity of PCD lung disease varied significantly between individuals. Structural lung disease was detected in all subjects with a median (IQR) extent score of 10.3 (7 to 19; maximum score = 60). Functional MRI ventilation impairment was present in 52% of subjects affecting 24.2% (21.1 to 25.2%) of the lung. Relative perfusion impairment was detected in 78% of individuals affecting 21.1% (19.4 to 25.9%) of the lung. LCI was abnormal in 83% (median 8.3 (2.6 to 13.2) z-scores) and FEV 1 was abnormal in 27% (-0.5 (-1.6 to 0.3) zscores) of individuals. Concordance between spirometry and imaging outcomes was poor, with 52% of patients showing both abnormal MRI and LCI values, but normal FEV 1 . Conclusions: Discordance between lung function and imaging outcomes in patients with PCD supports the use of both imaging and lung function, such as MBW, for surveillance of this heterogeneous disease.
doi:10.1513/annalsats.201712-967oc
fatcat:j46a5syzrjc77o4bhaxj7fh2sa
