TY - JOUR
T1 - Structural and functional lung impairment in primary ciliary dyskinesia. Assessment with magnetic resonance imaging and multiple breath washout in comparison to spirometry
AU - Nyilas, Sylvia
AU - Bauman, Grzegorz
AU - Pusterla, Orso
AU - Sommer, Gregor
AU - Singer, Florian
AU - Stranzinger, Enno
AU - Heyer, Christoph
AU - Ramsey, Kathryn
AU - Schlegtendal, Anne
AU - Benzrath, Stefanie
AU - Casaulta, Carmen
AU - Goutaki, Myrofora
AU - Kuehni, Claudia E.
AU - Bieri, Oliver
AU - Koerner-Rettberg, Cordula
AU - Latzin, Philipp
PY - 2018/12/1
Y1 - 2018/12/1
N2 - 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: A total of 30 study participants with PCD (median, 13.4 yr; range, 5-28 yr) 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, forced expiratory volume in 1 second (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 (interquartile range) extent score of 10.3 (7-19; 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% (20.5 [21.6 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. 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.
AB - 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: A total of 30 study participants with PCD (median, 13.4 yr; range, 5-28 yr) 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, forced expiratory volume in 1 second (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 (interquartile range) extent score of 10.3 (7-19; 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% (20.5 [21.6 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. 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.
KW - Lung function
KW - Magnetic resonance imaging
KW - Nitrogen multiple breath washout
KW - Primary ciliary dyskinesia
UR - http://www.scopus.com/inward/record.url?scp=85057571954&partnerID=8YFLogxK
U2 - 10.1513/AnnalsATS.201712-967OC
DO - 10.1513/AnnalsATS.201712-967OC
M3 - Article
C2 - 30290127
VL - 15
SP - 1434
EP - 1442
JO - Proceedings of the American Thoracic Society
JF - Proceedings of the American Thoracic Society
SN - 2329-6933
IS - 12
ER -