Diagnosis by ultrastructural study of primary ciliary dyskinesia

Introduction and objective: Primary ciliary dyskinesia (PCD), also known as ciliary immotility (SIC) syndrome is an inherited disorder that includes a group of diseases in which respiratory cilia are immobile, ciliary movement is dyskinetic and ineffective or no cilia. The aim of this study is to determine the ciliary ultrastructure in patients with suspected DCP. Method: In 8 patients with suspected DCP nasal mucosa biopsy is performed with endoscopy at the inferior turbinate in the middle third by the ENT service under local anesthesia. Results: Of the 8 cases studied in 2 cases no ciliary ultrastructural level defects were found. In two cases with abnormal ciliary ultrastructure is present Kartagener syndrome. In a case no cilia were observed in the nasal mucosa. Discussion: The DCP and SIC are synonymous terms from clinical and pathogenetic view: immobility and dyskinesia lead to an absence of mucociliary transport, stasis of respiratory secretions with their consequences: chronic infections of lower respiratory tract and from birth. The most common ultrastructural defect is the total or partial absence of dynein. Conclusions: The ultrastructural study allows the diagnosis of PCD because genetic diagnosis is complicated and therefore get an early diagnosis of this condition which serves to improve the morbidity and mortality of these patients.