This was a 30-year-old non-smoker male, born by non-consanguineous parents. He presented to the outpatient clinic (in May 2006) with chief complaints of recurrent episodes of common cold, sneezing, and cough with expectoration for the past 10 years, exertional shortness of breath for the last 5 years. The patient also revealed that he frequently developed cough, cold, rhinorrhea, nasal blockade, and ear discharge during childhood. At the time of the first visit, the vital parameters were within normal limits. Physical examination revealed grade 2 digital clubbing. On auscultation, bilateral wheeze and right basal crackles were audible. Electrocardiogram showed evidence of dextrocardia. Chest CT scan was done on May 18, 2006, and revealed dextrocardia, and diffuse bronchiectasis. Spirometric evaluation showed moderate obstruction. In the follow up visits the patients showed a progressive impairment of functional respiratory pattern. In 2007 the nasal brushing was performed, with demonstration of 100% cilia lacking of inner dynein arm associated with axonemal disorganization in 60% of the cilia, presumably related to defects in the radial spokes (Figure ). In 2008 pulmonary function tests showed severe obstruction in spirometry and respiratory failure with low oxygen level in artery blood sample. The patient died in 2010.
This was a 62-year-old non-smoker female. Married with one child. She presented to the outpatient clinic (in October 2007) complaining of cough with abundant mucopurulent expectoration, many bronchitic exacerbations (> 3 episodes/yrs), recurrent cold, and progressively increasing breathlessness in the past 5 years. In her past history there were frequent visits for recurrent chest infections and pneumonia. At the time of the first visit, the vital parameters were within regular limits, whereas at thoracic auscultation bilateral crackles in the basal region were present. Basal spirometric evaluation showed moderate obstruction with positive reversibility test. Therapy with association of salmeterol/fluticasone was prescribed, with stabilization of respiratory values at the follow up visits. In 2008 the nasal brushing was performed, with demonstration of 100% of cilia lacking outer dynein arms (Figure ). In the last years she suffered of 2/3 exacerbations per year, without need of hospitalization.