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 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.