Makindo Medical Notes"One small step for man, one large step for Makindo" |
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Kartagener's Syndrome π«π: A rare autosomal recessive disorder and subset of Primary Ciliary Dyskinesia (PCD), caused by defective dynein arms in cilia. Classic triad = Situs inversus π + Chronic sinusitis π€§ + Bronchiectasis π«. Results from impaired mucociliary clearance β recurrent infections + infertility issues.
| Investigation | Description | Comments |
|---|---|---|
| Bloods 𧬠| FBC, U&E, CRP. | Look for infection. |
| CXR/Imaging πΈ | Lung changes, situs inversus. | Useful in flare-ups. |
| Nasal Nitric Oxide | Low levels in PCD. | Screening test. |
| Ciliary Function Testing | Assesses beat frequency/motion. | Gold standard. |
| Immunoglobulins | IgG, IgA etc. | Rule out immunodeficiency. |
| Genetic Testing | DNAI1, DNAH5 mutations. | Confirms diagnosis. |
| HRCT Chest | Bronchiectasis pattern. | Staging severity. |
| Electron Microscopy π¬ | Dynein arm defects. | Diagnostic confirmation. |