Optimal Biopsy Techniques in the Diagnosis of Primary Ciliary Dyskinesia

MacCormick, Johnna; Robb, Ian D.; Kovesi, Tom; Carpenter, Blair

doi:10.2310/7070.2002.19153

Cited by 31 publications

(33 citation statements)

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“…Epithelial metaplasia and denuded basement membrane were the main reasons for failure in nasal and bronchial biopsies, respectively. The site of biopsy for ciliary studies has rarely been studied in the literature, except for one paediatric study that also showed a high frequency of metaplasia in nasal biopsies [16]. Analysis showed a similar TEM feasibility between nasal and bronchial biopsies, regardless of the age.…”

Section: Discussionmentioning

confidence: 99%

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

Papon¹,

Coste²,

Roudot‐Thoraval³

et al. 2009

European Respiratory Journal

137

134

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Transmission electron microscopy (TEM) analysis of ciliary ultrastructure is classically used for the diagnosis of primary ciliary dyskinesia (PCD). We report our extensive experience of TEM analysis in a large series of patients in order to evaluate its feasibility and results.TEM analysis performed in 1,149 patients with suspected PCD was retrospectively reviewed. Biopsies (1,450) were obtained from nasal (44%) or bronchial (56%) mucosa in children (66.5%) and adults (33.5%).TEM analysis was feasible in 71.4% of patients and showed a main defect suggestive of PCD in 29.9%. TEM was more feasible in adults than in children, regardless of the biopsy site. Main defects suggestive of PCD were found in 76.9% of patients with sinopulmonary symptoms and in only 0.4% of patients with isolated upper and 0.4% with isolated lower respiratory tract infections. The defect pattern was similar in children and adults, involving dynein arms (81.2%) or central complex (CC) (18.8%). Situs inversus was never observed in PCD patients with CC defect. Kartagener syndrome with normal ciliary ultrastructure was not an exceptional condition (10.2% of PCD).In conclusion, TEM analysis is feasible in most patients and is particularly useful for PCD diagnosis in cases of sinopulmonary syndrome of unknown origin.

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Section: Discussionmentioning

confidence: 99%

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

Papon¹,

Coste²,

Roudot‐Thoraval³

et al. 2009

European Respiratory Journal

137

134

View full text Add to dashboard Cite

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“…A few studies have examined the diagnostic yields and success rates of different sampling techniques. 23,24 Experience plays an important role in the success rates, as sites performing the highest volume of biopsies have the highest proportion of interpretable specimens and may reach a success rate as high as 88%. 23 …”

Section: Definitive Diagnostic Testsmentioning

confidence: 99%

Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists

Stillwell

Wartchow

Sagel

2011

Pediatric Allergy, Immunology, and Pulmonology

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Primary ciliary dyskinesia (PCD) is a rare genetic condition that causes impaired mucociliary clearance due to poorly functioning cilia. PCD is one disease manifestation of the many recently recognized associations with ciliary malfunction, referred to as ''ciliopathies.'' Manifestations of PCD commonly begin in the neonatal period with cough, pneumonia, and chronic ear infections or effusions. Approximately half of the affected individuals have situs inversus totalis. The diagnosis is often made in later childhood or early adulthood, because symptoms mimic more common childhood illnesses and because the definitive diagnosis of PCD can be challenging. Treatment recommendations are largely based on therapies used for other conditions with impaired mucociliary clearance in the absence of evidence-based research specific for PCD. Early recognition and initiation of both otolaryngologic and pulmonary management might reduce potential long-term morbidities. The purpose of this article is to update primary care providers, allergists, and pediatric pulmonologists on recent advances in this interesting condition.

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“…Nasal ciliary specimens have been favored because of the ease, safety, and cost-effectiveness over lower respiratory specimen collection [8,9]. Nasal biopsy samples frequently are metaplastic, and therefore the optimal diagnostic modality for primary ciliary dyskinesia remains nasal brushings [8].…”

Section: Nasal Vs Tracheal Biopsy Vs Brushings (Patient 5)mentioning

confidence: 99%

“…Nasal biopsy samples frequently are metaplastic, and therefore the optimal diagnostic modality for primary ciliary dyskinesia remains nasal brushings [8].…”

Section: Nasal Vs Tracheal Biopsy Vs Brushings (Patient 5)mentioning

confidence: 99%

Flexible bronchoscopy and interdisciplinary collaboration in pediatric large airway disease

Shah

Bent

Vicencio

et al. 2008

International Journal of Pediatric Otorhinolaryngology

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Optimal Biopsy Techniques in the Diagnosis of Primary Ciliary Dyskinesia

Cited by 31 publications

References 0 publications

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists

Flexible bronchoscopy and interdisciplinary collaboration in pediatric large airway disease

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