Júlia Kvaššayová, Peter Ďurdík, Daša Oppová, Lucia Marušiaková, Peter Bánovčin
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder characterized by abnormal ciliary function associated with abnormal ciliary ultrastructure. These diseased are termed ciliopathies. Clinical manifestation is nonspecific which usually presents soon after birth. Clinical signs are presented by damage organs with cilia. Chronic rhinosinusutitis, otitis and wet cough are the most common. The diagnosis is facilitated by the presence of situs viscerum or heterotaxia. PCD should be confirmed in a specialist centre using appropriate diagnostic testing.
Secondary care physicians need guidance of whom to refer for diagnostic testing. In case of suspicion of PCD, we can use easily available clinical information from a large prospective population to produce a scoring tool to predict whether symptomatic patients have PCD: PICADAR. Cut off score is 5, when we to aid appropriate referral of patients for diagnostic testing.