[Revision of the immobile ciliary syndrome on the ENT speciality's point of view].

Abstract

Primary ciliary dyskinesia is a disorder characterized by the presence of recurrent infections of the superior and inferior respiratory tract. It is caused by a recessive autosomic genetic disorder. Its diagnosis is often given late, because other diagnostic possibilities are thought of first. It is common to find many previous visits to the ENT specialist in a medical record. The final diagnosis is given by electronic microscopy observing the ciliary defect, which is frequently due to the absence or anomalies of dineine in the arms and in the structures of the microtubule pairs responsible of movement. The mucus to study is usually obtained from the inferior nasal concha. In the rest of cases the mucus of the tracheobronchial apparatus is only studied if a fibrobronchoscopy is necesary in order to evaluate bronchial compromise or when the nasal sample is not sufficient. The ENT specialist must be alert in order to be able to think of this entity. The genetic advice is the best way to prevent it.