Primary Ciliary Dyskinesias is a disease that affects the respiratory and reproductive systems. It is caused by defects in the cilia that line the airways and reproductive tract. The spelling of this word can be explained using the International Phonetic Alphabet (IPA) as follows: /ˈpraɪməri sɪliəri dɪskɪˈniːziəs/. The first syllable is pronounced as "pry" with a long 'i' sound. The second syllable is pronounced as "muh" with a schwa sound. The third syllable is pronounced as "ree" with a long 'e' sound. The fourth syllable is pronounced as "sill" with a short 'i' sound. The fifth syllable is pronounced as "ər-ee" with a schwa-ry sound. The sixth syllable is pronounced as "disk" with
Primary Ciliary Dyskinesia (PCD) is a rare, genetic disorder that affects the structure and function of cilia present in the respiratory tract, middle ear, and reproductive organs. Cilia are microscopic, hair-like structures that play a crucial role in maintaining the health and normal functioning of these organs by facilitating the movement of mucus, fluids, and particles.
In individuals with PCD, the cilia are either absent, immotile, or structurally abnormal, leading to impaired clearance of mucus and debris from the respiratory tract. This results in recurrent respiratory infections, chronic cough, and nasal congestion. PCD can also affect the functioning of the middle ear, causing chronic otitis media and hearing loss.
The disease is inherited in an autosomal recessive manner, where two copies of the defective gene must be inherited, one from each parent, to develop the condition. PCD can be caused by mutations in several genes responsible for the proper development and functioning of cilia.
Diagnosis of PCD involves a combination of clinical evaluation, imaging studies, and specialized tests to assess ciliary function. Treatment for PCD aims at managing symptoms and preventing complications. This includes regular airway clearance techniques, antibiotics to treat infections, and hearing aids for hearing impairment.
As PCD is a lifelong condition, individuals with this disorder require long-term medical management and support. Early diagnosis and appropriate treatment can significantly improve the quality of life for those affected with PCD.