[Diagnostic procedures in primary ciliary dyskinesia. The usefulness of nasal biopsy]

Eight patients are studied who are suspected to have primary ciliary dyskinesia (PCD). All cases presented from the first year of live repetitive respiratory infections, chronic cough, mucopurulent rhinorrhea, radiologic signs of sinusitis and one patient also presented situs inversus. Bronchiectasis were found in four cases, they were discarded in two cases, and in two other cases they could not be found nor discarded. The definite diagnosis was achieved by the study of the ultrastructure of the cilia by nasal biopsy. In three cases, nasal biopsy discarded the diagnosis of PCD and confirmed such diagnosis in other three cases. One case of PCD was diagnosed by a bronchial biopsy after two unsuccessful attempts to obtain a nasal sample containing ciliary epithelium. One case remains undiagnosed since after a nonvalid biopsy, we did not consider necessary to obtain another one given that the patient was asymptomatic during the last three years.