This was a 43-year-old non-smoker male, born by non-consanguineous parents, who had a mental retardation due to perinatal hypoxemia. He had several hospitalizations in our and other pneumology units, for severe acute exacerbation of bronchitis, characterized by continuous cough with purulent sputum, fever, wheezing and dyspnea. He suffered from recurrent episodes of common cold, cough with expectoration and exertional dyspnea since his childhood. At the time of the first visit to our outpatients clinic in 2007, physical examination revealed grade 1 digital clubbing. On auscultation, bilateral wheeze and bilateral basal crackles were audible. Bacteriological examination of sputum showed Acinetobacter Iwoffii infection. Spirometric evaluation showed moderate obstruction. He was treated with antibiotics and association of salmeterol/fluticason for maintenance inhalation therapy. Nevertheless, he suffered from several exacerbations and needed some hospitalizations. Chest CT scan was done during one of this hospitalizations and revealed dextrocardia, diffuse bronchiectasis and widespread micronodularity. Transcutaneous O2-saturation was low (89% at rest), and long-term O2-therapy was prescribed along with aerosol therapy. In 2008 the nasal brushing was performed, showing all cilia with both dynein arms. About 60% of cilia displayed aberrant number and/or localization of central or peripheral microtubules (Figure ). Basal bodies showed an atypical distribution (Figure ). In the follow up visits the patients showed a progressive impairment of functional respiratory pattern. The patient died in 2012.
This was a 39-year-old smoker female, born by non-consanguineous parents. Married with two children. She was hospitalized in August 2006 for acute exacerbation of bronchitis with cough and mucopurulent expectoration, and hyperthermia. She reported recurrent episodes of common cold, with productive cough and rhinorrhea since the childhood. Chest CT scan was done on August 31, 2006, and revealed dextrocardia, and bronchiectasis with prevalent diffusion in the right lung. On auscultation, right basal crackles were audible. Electrocardiogram showed evidence of dextrocardia. Spirometric evaluation showed moderate obstruction. Therapy with the DPI fixed combination formoterol/budesonide was established. In the follow up visits the patients showed a stabilization of functional respiratory pattern. In 2007 the nasal brushing was performed, with demonstration of 100% cilia lacking outer dynein arm (Figure ). She missed the following up visits.