Aportes de la microscopía electrónica de transmisión al diagnóstico de la disquinesia ciliar

Mónica Brauer; Lorena Viettro

Authors

Mónica Brauer Instituto de Investigaciones Biológicas Clemente Estable, Laboratorio de Biología Celular, Jefe. PhD
Lorena Viettro Instituto de Investigaciones Biológicas Clemente Estable, Laboratorio de Biología Celular, Becaria

Keywords:

RESPIRATORY DISEASES, KARTAGENER'S SYNDROME, ELECTRON MICROSCOPY, CILIARY MOTILITY DISORDERS

Abstract

Primary ciliary dyskinesia is an inherited disease characterized by microanatomic or functional disorders affect to cilia or flagellum of the spermatozoa. Clinical signs include early recurrent infections of the aerial routes. Despite genetic determinants, recurrent infection and inflammation -as well as environmental agents- may lead to unspecific ciliar alterations and secondary ciliary dyskinesia.
Forty nasal and bronchial biopsies of 33 people suspected to carry ciliar dyskinesia were referred to the Cellular Biology Laboratory (Instituto de Investigaciones Biológicas Clemente Estable) and analyzed by electronic microscopy by transmission.
The overall study showed that 9 patients (27%) had abnormal ciliary ultrastructure compatible with primary ciliary dyskinesia diagnosis, of which three had situs inversus totalis. Secondary ciliary dyskinesia was seen in 52% of the patients and 21% of the patients showed, despite clinical signs, a normal ciliary ultrastructure. On average, results of the study tend to confirm high incidence of ciliar disorders in patients with chronic respiratory disorders. Considering that early diagnosis is essential in order to prevent permanent respiratory disorders, cilial ultrastructural examination should be considered in patients with situs inversus and sibling, as well as in patients with chronic and severe respiratory disease without ethyologic diagnosis.

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