Early diagnosis and appropriate treatment are the best way to prevent the respiratory consequences associated with PCD. Unfortunately, although the condition is present at birth, it frequently is not diagnosed until much later, sometimes into adulthood. Partly, this is because PCD mimics other more common disorders.
When presented with a clinical problem, most physicians will establish what is called the "differential diagnosis." The differential diagnosis is the set of disorders the physician considers based on the presenting symptoms. After determining which are the most likely candidate disorders, the physician will start running tests to systematically rule the chosen disorders in or out.
Even patients with Kartagener syndrome who have a very clear physical manifestation of PCD (Situs inversus) are frequently not diagnosed for many years. Clearly, there is a need for increased awareness of PCD among patients and clinicians!
There is currently no cure for PCD, and no medication that will make the cilia beat more vigorously. However, the model of aggressive, preventative care practiced by the CF community is an excellent example for PCD patients. While CF and PCD are two different disorders with very different long-term outcomes, they have in common a disruption in the functioning of the mucociliary escalator, a vital component of respiratory tract health.
The respiratory tract is one of the few body systems constantly exposed to the outside world. Each time we inhale, we are essentially "inviting" a host of foreign invaders into our nose, mouth, and lungs. This is the price we pay to satisfy our oxygen requirement. Inhalation tends to be a one-way proposition, at least in terms of debris retention. When we exhale, we may get rid of unwanted carbon dioxide, but we retain most of the debris we've inhaled.
This is where the pulmonary defense system comes in. The role of the pulmonary defense system is to keep the lungs free of debris that may lead to inflammation and/or infection. There are several components to the pulmonary defense system. One of the most important is the mucociliary escalator. The respiratory tract and many other body surfaces are lined with special tissue called ciliated epithelia. Ciliated epithelium contains billions of microscopic hair-like structures (cilia) that beat in a coordinated fashion. Mucus-producing cells in the epithelial tissue secrete a thin, sticky layer of mucus that catches and holds bacteria and other debris. The constant, rhythmic beating of the cilia propels the debris-laden mucus to the large airways where it can be coughed out. For most people, this is a beautifully balanced, efficient system. Until challenged by a cold or bronchitis, most people are completely unaware of the mucociliary escalator operating inside of them.