Pulmonary Radioaerosol Mucociliary Clearance in Diagnosis of Primary Ciliary Dyskinesia

Marthin, June Kehlet; Mortensen, Jann; Pressler, Tacjana; Nielsen, Kim G.

doi:10.1378/chest.06-2951

Cited by 72 publications

(73 citation statements)

References 13 publications

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“…However, studies on mucociliary clearance in patients with PCD are sparse [72][73][74][75][76]. Nasal mucociliary clearance can be used as a screening tool for PCD, even in infants.…”

Section: Radioaerosol Mucociliary Clearance Testsmentioning

confidence: 99%

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Barbato¹,

Frischer²,

Kuehni³

et al. 2009

European Respiratory Journal

456

587

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Primary ciliary dyskinesia (PCD) is associated with abnormal ciliary structure and function, which results in retention of mucus and bacteria in the respiratory tract, leading to chronic oto-sino-pulmonary disease, situs abnormalities and abnormal sperm motility.The diagnosis of PCD requires the presence of the characteristic clinical phenotype and either specific ultrastructural ciliary defects identified by transmission electron microscopy or evidence of abnormal ciliary function.Although the management of children affected with PCD remains uncertain and evidence is limited, it remains important to follow-up these patients with an adequate and shared care system in order to prevent future lung damage.This European Respiratory Society consensus statement on the management of children with PCD formulates recommendations regarding diagnostic and therapeutic approaches in order to permit a more accurate approach in these patients. Large well-designed randomised controlled trials, with clear description of patients, are required in order to improve these recommendations on diagnostic and treatment approaches in this disease.

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“…However, studies on mucociliary clearance in patients with PCD are sparse [72][73][74][75][76]. Nasal mucociliary clearance can be used as a screening tool for PCD, even in infants.…”

Section: Radioaerosol Mucociliary Clearance Testsmentioning

confidence: 99%

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Barbato¹,

Frischer²,

Kuehni³

et al. 2009

European Respiratory Journal

456

587

View full text Add to dashboard Cite

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“…To improve diagnostic certainty, a variety of further investigations can be employed [2], including reanalysis of CBF, CBP and TEM following culture of the cells at an air-liquid interface [7,8], or using immunofluorescence microscopy [9] to identify ciliary proteins. A single-centre study has previously reported the use of pulmonary radioaerosol mucociliary clearance (MCC) in the diagnosis of PCD [10]. The method is based on clearance patterns after the inhalation of a radioaerosol tracer.…”

mentioning

confidence: 99%

Pulmonary radioaerosol mucociliary clearance in primary ciliary dyskinesia

et al. 2014

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Primary ciliary dyskinesia (PCD) is a genetic condition affecting one in 10 000-40 000 people from birth [1]; cilia fail to beat, and the airway clearance of mucus and debris is severely impaired. If untreated, this results in progressive lung infection leading to bronchiectasis and ultimately respiratory failure. Additionally, delayed diagnosis has implications for genetic counselling, appropriate management of glue ear and fertility advice. Early diagnosis and appropriate treatment are believed to improve outcome. The diagnosis of PCD is highly specialised and results can remain inconclusive, despite state of the art equipment and diagnostic techniques. A European consensus statement [2,3] highlighted that there is no ''gold-standard'' diagnostic test; diagnosis requires expert review of clinical history and screening tests (nasal nitric oxide measurement) alongside analysis of ciliary function and ultrastructure [2]. It is recommended that ciliary activity of respiratory epithelial cells obtained by nasal or bronchial brushing is recorded using a high-speed video camera mounted on a microscope. The images are played back in slow motion to analyse ciliary beat pattern (CBP) and frequency (CBF). Transmission electron microscopy (TEM) is used to assess ciliary ultrastructure [4]. Diagnostic uncertainty can be caused by secondary damage of the epithelium during sampling or due to infection or inflammation of epithelia; this damage can lead to abnormalities of ultrastructure, CBF and CBP. Furthermore, diagnosis is hindered by normal ciliary ultrastructure in 3-30% of cases of PCD [5,6]. To improve diagnostic certainty, a variety of further investigations can be employed [2], including reanalysis of CBF, CBP and TEM following culture of the cells at an air-liquid interface [7,8], or using immunofluorescence microscopy [9] to identify ciliary proteins. A single-centre study has previously reported the use of pulmonary radioaerosol mucociliary clearance (MCC) in the diagnosis of PCD [10]. The method is based on clearance patterns after the inhalation of a radioaerosol tracer. It provides a whole-lung functional test for pulmonary radioaerosol MCC. The investigation is noninvasive and has been used in thousands of patients with other lung diseases, as young as ,5 years. The authors reported that MCC was an effective noninvasive functional test for PCD [10] but the study was preliminary, and the feasibility of this complex technique and interpretation of data have not been assessed in other centres. We therefore conducted a study to replicate the results using a standardised protocol. This study was approved by the National Research Ethics Service (South Central committee 11/ SC/0192) and all subjects gave written informed consent.

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“…Whilst the reason for reduced nNO remains elusive [27], measurement became widely established as a screening test [11,17,19,[28][29][30][31]. A recent meta-A c c e p t e d M a n u s c r i p t analysis of 11 studies comparing nNO during a velum closure breath hold reported a mean nNO output of 19 nl/min (SD 18.6) in PCD (n=478) and 265 nl/min (SD 118.9) in healthy controls (n=338) [32].…”

Section: Page 5 Of 36mentioning

confidence: 99%

“…Pulmonary radioaerosol MCC has been reported to differentiate PCD from healthy individuals [97,98]. The method is based on clearance patterns after the inhalation of a radioaerosol tracer, providing a whole-lung functional test for pulmonary radioaerosol MCC.…”

Section: Genetics: Pcd Is Generally An Autosomal Recessive Disease Tmentioning

confidence: 99%

Diagnostic Methods in Primary Ciliary Dyskinesia

Lucas

Paff

Goggin

et al. 2016

Paediatric Respiratory Reviews

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Educational Aims; The reader will be able to; Describe the basis of the various diagnostic tests for PCD  Have an understanding of the strengths and limitations of each test  Understand that there is no 'gold standard' test  Understand why highly specialised centres should analyse samples and interpret results. Page 2 of 36A c c e p t e d M a n u s c r i p t  SummaryDiagnosing primary ciliary dyskinesia is difficult. With no reference standard, a combination of tests is needed; most tests require expensive equipment and specialist scientists. We review the advances in diagnostic testing over the past hundred years, with emphasis on recent advances.We particularly focus on use of high-speed video analysis, transmission electron microscopy, nasal nitric oxide and genetic testing. We discuss the international efforts that are in place to advance the evidence base for diagnostic tests.

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Pulmonary Radioaerosol Mucociliary Clearance in Diagnosis of Primary Ciliary Dyskinesia

Cited by 72 publications

References 13 publications

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

Pulmonary radioaerosol mucociliary clearance in primary ciliary dyskinesia

Diagnostic Methods in Primary Ciliary Dyskinesia

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