Primary ciliary dyskinesia: clinical manifestations and current diagnostic approaches.

Purpose of review: This review summarizes the clinical symptoms of primary ciliary dyskinesia (PCD) beginning at birth and current approaches for confirming diagnosis. Strengths and limitations of innovative adjunctive tests to improve detection are discussed, ultimately highlighting the importance of PCD expert networks to develop standardized guidelines and develop a standalone diagnostic tool.

Recent findings: PCD is underdiagnosed globally, reflecting overall awareness of this disease and limitations of diagnostic approaches. Over 50 disease-causing genes have been characterized, yet more are discovered each year. No single test can detect all PCD cases, therefore further research is needed to improve clinical options for diagnosis.

Summary: PCD is a genetic ciliopathy with serious health complications and impacts on quality of life. Clinical manifestation can vary significantly between individuals, which can delay diagnosis and negatively affect patient outcomes. Current diagnostic tests for PCD require significant resources and training to interpret, and the best-available tests may miss up to 30% of cases. Further work facilitated by expert collaborative networks will be instrumental to develop novel, enhanced diagnostic tools and ultimately improve outcomes for patients.