Sylvia Nyilas1,2,3, Grzegorz Bauman4,5, Orso Pusterla4,5, Gregor Sommer6, Florian Singer1, Enno Stranzinger2, Christoph Heyer7, Kathryn Ramsey1, Anne Schlegtendal8, Stefanie Benzrath8, Carmen Casaulta1, Myrofora Goutaki9, Claudia E Kuehni9, Oliver Bieri4,5, Cordula Koerner-Rettberg8, Philipp Latzin1. 1. 1 Pediatric Respiratory Medicine, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. 2. 2 Department of Diagnostic, Interventional, and Pediatric Radiology, Inselspital, University of Bern, Bern, Switzerland. 3. 3 University Children's Hospital Basel, Basel, Switzerland. 4. 4 Department of Radiology, Division of Radiological Physics, University of Basel Hospital, Basel, Switzerland. 5. 5 Department of Biomedical Engineering, University of Basel, Basel, Switzerland. 6. 6 Clinic of Radiology and Nuclear Medicine, University Hospital Basel, University of Basel, Basel, Switzerland. 7. 7 Institute of Pediatric Radiology, University Children's Hospital, Ruhr University Bochum, Bochum, Germany. 8. 8 Department of Pediatric Pneumology, University Children's Hospital of Ruhr University Bochum at St. Josef Hospital, Bochum, Germany; and. 9. 9 Institute for Social and Preventive Medicine, University of Bern, Bern, Switzerland.
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: 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% (-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. 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.
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% (-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. 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.
Authors: BreAnna Kinghorn; Sharon McNamara; Alan Genatossio; Erin Sullivan; Molly Siegel; Irma Bauer; Charles Clem; Robin C Johnson; Miriam Davis; Anne Griffiths; William Wheeler; Katherine Johnson; Stephanie D Davis; Margaret W Leigh; Margaret Rosenfeld; Jessica Pittman Journal: Ann Am Thorac Soc Date: 2020-09
Authors: Laura E Gardner; Katie L Horton; Amelia Shoemark; Jane S Lucas; Kim G Nielsen; Helene Kobbernagel; Bruna Rubbo; Robert A Hirst; Panayiotis Kouis; Nicola Ullmann; Ana Reula; Nisreen Rumman; Hannah M Mitchison; Andreia Pinto; Charlotte Richardson; Anne Schmidt; James Thompson; René Gaupmann; Maciej Dabrowski; Pleasantine Mill; Siobhan B Carr; Dominic P Norris; Claudia E Kuehni; Myrofora Goutaki; Claire Hogg Journal: BMC Proc Date: 2020-06-19
Authors: Florian Gahleitner; James Thompson; Claire L Jackson; Jana F Hueppe; Laura Behan; Eleonora Dehlink; Myrofora Goutaki; Florian Halbeisen; Ana Paula L Queiroz; Guillaume Thouvenin; Claudia E Kuehni; Philipp Latzin; Jane S Lucas; Bruna Rubbo Journal: ERJ Open Res Date: 2021-11-29
Authors: Kim G Nielsen; Mathias G Holgersen; Suzanne Crowley; June K Marthin Journal: Am J Med Genet C Semin Med Genet Date: 2022-03-29 Impact factor: 3.359
Authors: Orso Pusterla; Rahel Heule; Francesco Santini; Thomas Weikert; Corin Willers; Simon Andermatt; Robin Sandkühler; Sylvia Nyilas; Philipp Latzin; Oliver Bieri; Grzegorz Bauman Journal: Magn Reson Med Date: 2022-03-29 Impact factor: 3.737
Authors: J Raidt; J Brillault; F Brinkmann; A Jung; C Koerner-Rettberg; A Koitschev; H Linz-Keul; T Nüßlein; F C Ringshausen; J Röhmel; M Rosewich; C Werner; H Omran Journal: Pneumologie Date: 2020-09-25