Definition Of Clinical Criteria For Diagnosis Of Primary Ciliary Dyskinesia

RATIONALE: Primary Ciliary Dyskinesia (PCD), a genetic disorder of motile cilia, is associated with a range of clinical features including neonatal respiratory distress, chronic sino-oto-pulmonary disease, and laterality defects. The present “gold standard” diagnostic test, electron microscopic (EM) analysis of cilia, requires specialized technical expertise, is expensive and is not readily available. Genetic testing for PCD is evolving, but detects 0.05 for addition. Odds ratio estimate for each diagnostic criterion was 4.8 (95% confidence limits 2.6-8.6) with #1; 2.8 (1.6-4.9) with #2; 4.4 (2-6-7.3 with #3 and 5.2(3-1-8.8) with #5. Sensitivity and specificity were 0.47 and 0.96 for criteria and 0.92 and 0.61 for criterion. >3 >1 CONCLUSION: Clinical criteria may be useful for defining a PCD diagnosis (if for criteria out of 4 selected are met) and/or directing >3 which individuals warrant further diagnostic testing (if 1 or 2 criteria are met). Validation and cost analysis assessment are needed before utilization in the clinical setting.