Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia (pronunciation: prai-mer-ee sil-ee-er-ee dis-ki-nee-zhuh) is a rare, genetic disorder that affects the cilia in the human body.
Etymology
The term "Primary Ciliary Dyskinesia" is derived from the Latin word 'primarius' meaning 'first', the Latin word 'cilium' meaning 'eyelash', and the Greek word 'dyskinesia' meaning 'bad movement'.
Definition
Primary Ciliary Dyskinesia (PCD) is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and impaired sperm motility. It is caused by defects in the action of cilia lining the respiratory tract (including the nose, the bronchi, and the ear canals), the reproductive tract, and other organs.
Symptoms
Symptoms of PCD include chronic sinusitis, bronchitis, otitis media (middle ear infection), situs inversus (a condition in which the internal organs are positioned on the opposite side of the body), and male infertility.
Diagnosis
Diagnosis of PCD is often made based on clinical presentation, High-speed video microscopy of nasal or bronchial cilia, and genetic testing.
Treatment
Treatment for PCD is primarily supportive, including physiotherapy to clear mucus from the lungs, antibiotics to treat respiratory infections, and surgery for severe or persistent ear or sinus infections.
Related Terms
- Kartagener syndrome: A subset of PCD, characterized by sinusitis, bronchiectasis, and situs inversus.
- Bronchiectasis: A condition in which the bronchi are permanently dilated, thickened, and destroyed, leading to infection and obstruction of the airways.
- Dynein: A family of cytoskeletal motor proteins that move along microtubules in cells. Mutations in dynein genes can cause PCD.
External links
- Medical encyclopedia article on Primary Ciliary Dyskinesia
- Wikipedia's article - Primary Ciliary Dyskinesia
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