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Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. Deficiency in mucociliary clearance produces chronic respiratory infections since birth, male sterility by spermatozoid immotility and situs inversus in 40-50% of patients (Kartagener's syndrome). Diagnosis is made by analyzing cilia motility with high-speed digital video and ciliar ultrastructure. The wide distribution and functions of the cilia in the body mean that this dysfunction can generate other ciliopathies apart from primary ciliary dyskinesia., (Copyright 2008 Elsevier España, S.L. All rights reserved.)

A 36-year-old man had a history of recurrent respiratory infections and bilateral bronchiectasis. Sinus radiography showed absence of the frontal sinuses. Electron microscopy of the bronchial mucosa revealed ultrastructural ciliary abnormalities. The clinical features and diagnosis of primary ciliary dyskinesia are described.

Nasal mucociliary transport was studied in 33 HIV-positive patients with different stages of infection. Ciliary ultrastructure was studied in 8 of these cases. At the time of study, 24 patients had respiratory infections. Disturbances in mucociliary transport were found in 25 cases. In 6 of the 8 studies of ciliary ultrastructure, changes in the ciliary axonema were found, particularly in the central and peripheral microtubules.

The prevalence of primary ciliary dyskinesia syndrome (PCDS) in Western countries is of 1/40,000 but is 13% in patients with bronchiectasis. The aim of this study was to determine the prevalence of PCDS in patients with bronchiectasis and sinusitis, including whether or not these patients present specific clinical signs. Eighteen patients with these two conditions from an area with 750,000 inhabitants in Valencia (Spain), were studied for 2 years. Radiologic and clinical information was recorded and mucociliary motility was measured with albumin marked with radioactive technetium. The structure of the nasal mucosa cilia was also studied. In 14 patients (77%) mucociliary motility was suppressed and in 13 ultrastructural changes typical of PCDS were observed. Only male infertility and situs inversus were more frequent in patients with PCDS; other clinical signs were equally severe and frequent in patients with PCDS and in those in whom no cause for bronchiectasis and sinusitis could be found. We conclude that 1) the prevalence of PCDS in patients with bronchiectasis and sinusitis is 77%; 2) in these patients a test of mucociliary motility is sufficient for diagnosis (structural study not being required); 3) the prevalence of PCDS in our population seems to be greater than that described; and 4) clinical signs are similar in patients with PCDS and in those with bronchiectasis of unknown genesis.

We present 7 patients with a typical symptomatology of immotile cilia syndrome, three of them with complete situs inversus. Nasal mucociliary transport was studied by sero-albumin marked with technetium 99m. In all cases there was an absence of transport. The ultrastructure of the nasal cilia was studied. The findings were: In four cases alterations in the dynein arms, in three cases alterations in the central and peripheral microtubules associated por not to the defects in the dynein arms, and in one cases absence of cilia were observed. The ciliary complexes were common to all cases.

Ciliary dyskinesia syndrome or immotile cilia syndrome, is a congenital defect in the ultrastructure of cilia, which result in a clinical expression diverse: recurrent respiratory infections, recurrent otitis media, infertility in the adult male, and half of those situs inversus. A case of ciliary dyskinesia syndrome is presented, who suffered of recurrent pneumonia and relapsing secretory otitis media.

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.