This was a 42-year-old non-smoker male, born by non-consanguineous parents. He presented to the outpatient clinic (in September 2006) with chief complaints of recurrent episodes of common cold, cough with expectoration for the past 15 years. The patient also revealed that he frequently complained of developed cough, cold, rhinorrhea, and wheezing since his childhood. At the time of the first visit, the vital parameters were within normal limits. On auscultation, bilateral wheezes without crackles were present. Electrocardiogram showed evidence of dextrocardia. At the time of the first visit, spirometric evaluation showed mild obstruction. Therapy with association salmeterol/fluticasone via DPI was established, with stabilization of functional respiratory pattern, in the follow up visits. In 2007 the nasal brushing was performed, showing all examined cilia lacking outer dynein arm (Figure ). He was hospitalized for pneumonia to the lower left lobe as reported in the chest CT scan done on September 18, 2013 (Figure ). The patient is still in follow up, in maintenance therapy and treated for exacerbations.
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.