Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries.

Primary ciliary dyskinesia is a genetic disease of ciliary function leading to chronic upper and lower respiratory tract symptoms. The diagnosis is frequently overlooked because the symptoms are nonspecific and the knowledge about the disease in the primary care setting is poor. Additionally, none of the available tests is accurate enough to be used in isolation. These tests are expensive, and need sophisticated equipment and expertise to analyse and interpret results; diagnosis is therefore only available at highly specialised centres. The diagnosis is particularly challenging in countries with limited resources due to the lack of such costly equipment and expertise.In this review, we discuss the importance of early and accurate diagnosis especially for countries where the disease is clinically prevalent but diagnostic tests are lacking. We review the diagnostic tests available in specialised centres (nasal nitric oxide, high-speed video microscopy, transmission electron microscopy, immunofluorescence and genetics). We then consider modifications that might be considered in less well-resourced countries whilst maintaining acceptable accuracy.

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children.

Primary ciliary dyskinesia (PCD) is a hereditary disorder of mucociliary clearance causing chronic upper and lower airways disease. We determined the number of patients with diagnosed PCD across Europe, described age at diagnosis and determined risk factors for late diagnosis. Centres treating children with PCD in Europe answered questionnaires and provided anonymous patient lists. In total, 223 centres from 26 countries reported 1,009 patients aged < 20 yrs. Reported cases per million children (for 5-14 yr olds) were highest in Cyprus (111), Switzerland (47) and Denmark (46). Overall, 57% were males and 48% had situs inversus. Median age at diagnosis was 5.3 yrs, lower in children with situs inversus (3.5 versus 5.8 yrs; p < 0.001) and in children treated in large centres (4.1 versus 4.8 yrs; p = 0.002). Adjusted age at diagnosis was 5.0 yrs in Western Europe, 4.8 yrs in the British Isles, 5.5 yrs in Northern Europe, 6.8 yrs in Eastern Europe and 6.5 yrs in Southern Europe (p < 0.001). This strongly correlated with general government expenditures on health (p < 0.001). This European survey suggests that PCD in children is under-diagnosed and diagnosed late, particularly in countries with low health expenditures. Prospective studies should assess the impact this delay might have on patient prognosis and on health economic costs across Europe.

Optimal biopsy techniques in the diagnosis of primary ciliary dyskinesia.

OBJECTIVE: Adequate biopsy specimens that clearly demonstrate cilia, and therefore enable the determination of the presence or absence of primary cilia dyskinesia, may be difficult to obtain. This study is an attempt to identify the optimal sampling technique to best examine respiratory tract cilia. DESIGN: A prospective comparison of the four sampling techniques was carried out: nasal brushing, nasal biopsy, bronchial brushing, and tracheal biopsy. SETTING: Tertiary care pediatric hospital: Children's Hospital of Eastern Ontario. METHODS: Ten consecutive patients booked for bronchoscopy and tracheal biopsy underwent all four procedures. Specimens were examined under light microscopy for an assessment of quality. RESULTS: The nasal brushing and tracheal biopsy specimens provide superior quality (p = .22); however, nasal brushing is more cost efficient. Nasal biopsy samples frequently are metaplastic and therefore are inferior to nasal brushing samples (p = .02). CONCLUSION: With equal efficiency demonstrated, the reduction in potential morbidity and health care costs suggests nasal brushings to be the optimal initial investigation for primary ciliary dyskinesia.