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 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.