BACKGROUND: The examination of ciliary ultrastructure in a nasal sample remains a definitive diagnostic test for primary ciliary dyskinesia (PCD). METHODS: The quantitative assessment of ciliary ultrastructure in the diagnosis of PCD over a 20-year period was reviewed. RESULTS: During this period, 1182 patients were referred for ciliary ultrastructural analysis, 242 (20%) of whom were confirmed as having the disease. The two main causes of PCD identified were a lack of outer dynein arms (43%) and a lack of both inner and outer dynein arms (24%). Other causes included transposition, radial spoke and inner dynein arm defects. No specific ultrastructural defects were detected in 33 patients (3%) diagnosed as having PCD on the basis of their clinical features and screening tests that included a low nasal nitric oxide concentration or slow saccharine clearance and abnormal ciliary beat frequency or pattern. CONCLUSIONS: Electron microscopy analysis can confirm but does not always exclude a diagnosis of PCD.
BACKGROUND: The examination of ciliary ultrastructure in a nasal sample remains a definitive diagnostic test for primary ciliary dyskinesia (PCD). METHODS: The quantitative assessment of ciliary ultrastructure in the diagnosis of PCD over a 20-year period was reviewed. RESULTS: During this period, 1182 patients were referred for ciliary ultrastructural analysis, 242 (20%) of whom were confirmed as having the disease. The two main causes of PCD identified were a lack of outer dynein arms (43%) and a lack of both inner and outer dynein arms (24%). Other causes included transposition, radial spoke and inner dynein arm defects. No specific ultrastructural defects were detected in 33 patients (3%) diagnosed as having PCD on the basis of their clinical features and screening tests that included a low nasal nitric oxide concentration or slow saccharine clearance and abnormal ciliary beat frequency or pattern. CONCLUSIONS: Electron microscopy analysis can confirm but does not always exclude a diagnosis of PCD.
Authors: Luke R Bonser; Bradley W Schroeder; Lisa A Ostrin; Nathalie Baumlin; Jean L Olson; Matthias Salathe; David J Erle Journal: Am J Respir Cell Mol Biol Date: 2015-10 Impact factor: 6.914
Authors: Margaret W Leigh; Amjad Horani; BreAnna Kinghorn; Michael G O'Connor; Maimoona A Zariwala; Michael R Knowles Journal: Transl Sci Rare Dis Date: 2019-07-04
Authors: Mahmoud R Fassad; Amelia Shoemark; Marie Legendre; Robert A Hirst; France Koll; Pierrick le Borgne; Bruno Louis; Farheen Daudvohra; Mitali P Patel; Lucie Thomas; Mellisa Dixon; Thomas Burgoyne; Joseph Hayes; Andrew G Nicholson; Thomas Cullup; Lucy Jenkins; Siobhán B Carr; Paul Aurora; Michel Lemullois; Anne Aubusson-Fleury; Jean-François Papon; Christopher O'Callaghan; Serge Amselem; Claire Hogg; Estelle Escudier; Anne-Marie Tassin; Hannah M Mitchison Journal: Am J Hum Genet Date: 2018-11-21 Impact factor: 11.025
Authors: Michael R Knowles; Leigh Anne Daniels; Stephanie D Davis; Maimoona A Zariwala; Margaret W Leigh Journal: Am J Respir Crit Care Med Date: 2013-10-15 Impact factor: 21.405
Authors: Mahmoud R Fassad; Amelia Shoemark; Pierrick le Borgne; France Koll; Mitali Patel; Mellisa Dixon; Jane Hayward; Charlotte Richardson; Emily Frost; Lucy Jenkins; Thomas Cullup; Eddie M K Chung; Michel Lemullois; Anne Aubusson-Fleury; Claire Hogg; David R Mitchell; Anne-Marie Tassin; Hannah M Mitchison Journal: Am J Hum Genet Date: 2018-05-03 Impact factor: 11.025
Authors: Adam J Shapiro; Stephanie D Davis; Deepika Polineni; Michele Manion; Margaret Rosenfeld; Sharon D Dell; Mark A Chilvers; Thomas W Ferkol; Maimoona A Zariwala; Scott D Sagel; Maureen Josephson; Lucy Morgan; Ozge Yilmaz; Kenneth N Olivier; Carlos Milla; Jessica E Pittman; M Leigh Anne Daniels; Marcus Herbert Jones; Ibrahim A Janahi; Stephanie M Ware; Sam J Daniel; Matthew L Cooper; Lawrence M Nogee; Billy Anton; Tori Eastvold; Lynn Ehrne; Elena Guadagno; Michael R Knowles; Margaret W Leigh; Valery Lavergne Journal: Am J Respir Crit Care Med Date: 2018-06-15 Impact factor: 21.405