Primary ciliary dyskinesia: two different clinical cases

Abstract

Primary ciliary dyskinesia (PSD) is a clinically and genetically heterogeneous condition characterized by defective motile cilia activity. It is a rare disease with a frequency of 1 in 15,000-20,000 people and is generally inherited in an autosomal recessive and X-linked disease pattern. The diagnosis of PSD becomes easier when the patient has situs inverus anomaly accompanying recurrent lower and upper respiratory tract infections, as in our second case. However, it becomes vice versa in the absence of a situs anomaly. In this case report, we present two PSD patients with diverse clinical characteristics, one with Kartagener’s syndrome and the other without these features