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 40-year-old non-smoker female, married with two children. She was hospitalized in 2005 in another public hospital in which thoracic CT-scan was performed with diagnosis of KS. She attended our outpatient clinic in 2008, for a routine control visit prompted by his General Practitioner. Patient’s clinical history was characterized by recurrent cold, bronchitis and rhinorrhea since her childhood. At the time of the first visit, the vital parameters were within normal limits and thoracic auscultation yielded a normal finding without wheezing and/or crackles. Spirometric exam was within normal range. No therapy was necessary. In 2008 the nasal brushing was performed, with 100% of the cilia lacking inner dynein arms (Figure ). She suffered only few exacerbations (less than 1/yrs) without need of hospitalization. In the follow up visits respiratory function was stable and no bronchodilator therapy has been prescribed so far.