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 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.