Primary Ciliary Dyskinesia/Kartagener Syndrome - Clinical and Genetic Aspects

Approaches to Bronchitis 4In this chapter, four cases with PCD/KS diagnosed in our institution were reported.A literature review of clinical and genetic aspects of PCD/KS was performed. Case reportsCase 1 (Taniya et al., 1984) This case is an anatomical observation on a Japanese male cadaver (61-year-old) with chronic sinusitis, bronchiectasis and situs inversus viscerum totalis.Figure 1 showed the associated abnormalities of this case.Case 2 and Case 3 (Tanaka et al., 2007) They are the cases of two sisters (Case 2; 25-year-old and Case 3; 19-year-old) who had a healthy brother.The saccharin clearance time (SCT) was measured to examine the mucociliary function.In both cases, the SCT lasted over 60 minutes.Roentgenography and CT scans revealed that both patients had the clinical triad of chronic sinusitis, chronic bronchitis with bronchiectasis, and situs inversus.Case 2 (elder sister) had dextrocardia and scoliosis (Fig. 2a,b), while Case 3 (younger one) had situs inversus of the lung, liver and stomach as well as dextrocardia (Fig. 3a,b).Chest CT scans showed the bronchitis with bronchiectasis (Fig. 2c,d and Fig. 3c,d). Case 4This case is a Japanese male (30-year-old) who had chronic sinusitis and bronchiectasis without situs inversus. How to referenceIn order to correctly reference this scholarly work, feel free to copy and paste the following: