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 40-year-old non-smoker female, married with two children. She was hospitalized in 2005 in another public hospital in which thoracic CT-scan was performed with diagnosis of KS. She attended our outpatient clinic in 2008, for a routine control visit prompted by his General Practitioner. Patient’s clinical history was characterized by recurrent cold, bronchitis and rhinorrhea since her childhood. At the time of the first visit, the vital parameters were within normal limits and thoracic auscultation yielded a normal finding without wheezing and/or crackles. Spirometric exam was within normal range. No therapy was necessary. In 2008 the nasal brushing was performed, with 100% of the cilia lacking inner dynein arms (Figure ). She suffered only few exacerbations (less than 1/yrs) without need of hospitalization. In the follow up visits respiratory function was stable and no bronchodilator therapy has been prescribed so far.