This was a 32-year-old non-smoker female. She presented to the outpatient clinic (in October 2007) with chief complaints of recurrent cold, cough with copious expectoration, and progressively increasing shortness of breath for the last 3 years. She had been married for the last 6 years, without children. Her past history was significant in that she had had frequent visits for recurrent chest infections. Her family history revealed no parental consanguinity. Main purpose of the visit in our Unit was a planned pregnancy. At the time of the first visit, the vital parameters were within regular limits, and thoracic auscultation was normal. The patients was fostered to pregnancy, and she has had three children so far. In 2008 the nasal brushing was performed, showing the absence of outer dynein arms in all the ciliary sections (Figure ). In the last year, she suffered of some exacerbations and pneumonia, with 2 hospitalizations in our Unit. She had more chest CT scans, and the last one was done in 2013 (Figure ). Spirometric evaluation at the follow up visits showed mild to moderate obstruction, and therapy with the MDI fixed combination formoterol/beclometasone was established, with stabilization of functional respiratory pattern between the crisis. Exacerbations were treated with antibiotics, and she is still in maintenance therapy with LABA/ICS inhalant therapy. In 2014 diagnosis of autoimmune thyroiditis was done.
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.