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Kartagener's Syndrome (a subset of Primary Ciliary Dyskinesia) is a rare genetic disorder characterized by a triad of features: situs inversus (a condition where the major visceral organs are reversed or mirrored from their normal positions), chronic sinusitis, and bronchiectasis.
Investigation | Description | Comments |
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Bloods | FBC, U&E, CRP elevated with infection. | Treat infection. |
CXR | Look for consolidation or new changes. | Treat infection. |
Nasal Nitric Oxide Measurement | Measures the level of nitric oxide in the nasal passages, which is typically low in patients with PCD. | Often used as a screening tool for PCD. |
Ciliary Function Testing | Assess the movement and structure of cilia in samples taken from the nasal or bronchial epithelium. | Gold standard for diagnosing PCD; includes ciliary beat frequency and pattern analysis. |
Immunoglobulins | Check normal IgG, IgA etc. | Immunology advice if low with immunodeficiency. |
Aspergillus | Aspergillus antigen test. | Needs managed. |
Genetic Testing | Identifies mutations in genes associated with PCD such as DNAI1, DNAH5, and others. | Confirms the diagnosis and helps with genetic counselling. |
High-Resolution CT (HRCT) of the Chest | Imaging study to detect bronchiectasis and assess the extent of lung damage. | Useful for evaluating the severity of lung disease in PCD. |
Electron Microscopy | Provides detailed images of cilia to identify structural defects. | Usually performed on ciliary biopsy samples; helps confirm diagnosis. |