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 42-year-old non-smoker male, born by non-consanguineous parents. He presented to the outpatient clinic (in September 2006) with chief complaints of recurrent episodes of common cold, cough with expectoration for the past 15 years. The patient also revealed that he frequently complained of developed cough, cold, rhinorrhea, and wheezing since his childhood. At the time of the first visit, the vital parameters were within normal limits. On auscultation, bilateral wheezes without crackles were present. Electrocardiogram showed evidence of dextrocardia. At the time of the first visit, spirometric evaluation showed mild obstruction. Therapy with association salmeterol/fluticasone via DPI was established, with stabilization of functional respiratory pattern, in the follow up visits. In 2007 the nasal brushing was performed, showing all examined cilia lacking outer dynein arm (Figure ). He was hospitalized for pneumonia to the lower left lobe as reported in the chest CT scan done on September 18, 2013 (Figure ). The patient is still in follow up, in maintenance therapy and treated for exacerbations.