Bay Area Pediatric Pulmonary Medical Corporation - BAPP

Primary Ciliary Dyskinesia refers to a collection of diseases marked by abnormal cilial motion including cilia not moving at all. This disease sometimes runs in families. The cause of this disease is not fully understood but once documented is a permanent abnormality. Patients with PCD tend to retain secretions and have more frequent problems with coughing, bronchitis, and pneumonia. Frequent lung infections and damage the airways and lead to chronic lung disease.

How is PCD diagnosed?

Ciliary Biopsy is an easy office procedure to obtain a sample of the cilia. A scrape or brush into the nose (tickling your nose) can provide a sample for diagnosing PCD. Other tests to make the diagnosis include the saccharin test. A small amount of saccharin is placed in the nose and if the cilia are moving properly the taste of sweetness will soon be noticed by the patient. A few centers in the United States are able to test nasal Nitric Oxide (NO). This is a technically challenging test gathering gas coming from the nose and testing it for the quantity of Nitric Oxide. NO concentrations in patients with PCD are extremely low compared to normal.

What treatments help someone with PCD?

Airway clearance treatments to help move the stuck mucus are very important for these patients. (Link to Airway pages)

How can I learn more?

The PCD foundation for the United States has a wonderful web site and free information and can be contacted at www.pcdfoundation.org .

Ciliary Biopsy

Cilia are microscopic hair-like structures that are found in certain locations in the body. They line the breathing tubes, sinuses, ear tubes, parts of the gut, fallopian tubes and a single cilium is what makes a sperm move. Cilia normally beat or wave and if many cilia are lining the surface of something the cilia will beat in a coordinated fashion. Throughout the breathing tubes the cilia beat regularly and very quickly at 13 Hertz. They sweep the airways clean of mucus continuously and are the basis for primary lung defense for infection and inhaled particles. If cilia don’t move at all or don’t move as a coordinated unit secretions will clog airways and become infected.

It is important that this procedure be done when you are very healthy. Even a minor cold can cause the cilia to stop beating. Sinus infections or rhinitis should be treated and controlled prior to a ciliary biopsy. No special diet is needed for this test. The doctor will examine the nose to be sure it is not inflamed. If infection is found you will be treated to clear the infection and the test will be postponed until the end of your antibiotic course. The patient will lay down and look at the ceiling. If the patient is a small child, the parent usually assists by holding the head still. A small instrument with a very tiny scoop is gently lowered into the middle of the nasal passageway less than an inch and then touched against the nasal surface and slowly pulled up and out of the nose. This “tickle” often causes the patient to sneeze or cough. A bloody nose may occur but is usually very minor. The tiny specimen is placed in a specific solution and immediately taken to pathology for examination. The cilia are identified and their ability to move assessed. The doctor will return promptly, usually 15-20 minutes, with the answer. If the specimen is not good the procedure is repeated in the other nostril. If the cilia are not moving or moving incorrectly, the sample will be sent for electron microscopy so that the ultrastructure can be examined. This test usually takes 3-4 weeks and results in the exact diagnosis of PCD.