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 21-year-old non-smoker male, born by non-consanguineous parents. He presented to our outpatient clinic in December 2007, presenting personal CT-scan prescribed by his General Practitioner. Patient clinical history was characterized by recurrent cold, bronchitis and rhinorrhea since his childhood. At the time of the first visit, the vital parameters were within normal limits and thoracic auscultation was physiologic without wheezing and/or crackles. Electrocardiogram showed evidence of dextrocardia. Spirometric results were within normal range. No therapy was necessary. In 2008 the nasal brushing was performed, with demonstration of 50% normal ciliated cells. In the remaining 50% ciliated cells axonemes lacking both dynein arms were observed (Figure ). The patient missed the follow up visits.