What can you tell me about Kartagener Syndrome (immotile cilia syndrome). How is it, somewhat similar to cystic fibrosis? I have two young boys (3 and 5) with Kartagener syndrome. What are the chances of a third one having K.S.? Is this a terminal illness if not controlled, and what is the life expectancy of one having K.S.
If you know of any other parents with child(ren) with K.S., we would like to get in touch with them. There is no support for K.S. anywhere in Canada and as far as I know, in the U.S.A.Question:
Each person has two genes for each genetic trait. One gene comes from the mother and one from the father. Many genetic diseases do not cause problems if the person has only one defective gene because the "good" gene picks up the slack for the defective one. Therefore, for many genetic diseases, one must inherit a defective gene from mom and dad. Kartagener syndrome is one such disease. It is characterized by sinusitis, a lung disorder called bronchiectasis, infertility in males, and a condition called situs inversus which is when the heart is located within the right side of the chest rather than the normal left side.
Cilia are microscopic tubes that serve important functions. There are millions of these little tubes that line the cells of the lungs, nose, and sinuses. They beat together in a rhythmic fashion carrying dust and other contaminants away. If these little tubes don't function correctly as in Kartagener syndrome, the mucous and other dirt particles just sit there. This leads to infection (sinusitis) and chronic changes of the lung (bronchiectasis) which make it difficult to exhale. The reason these cilia do not work properly in those with Kartagener syndrome is that a key component of the cilia is either missing or defective.
Kartagener syndrome is actually a subset of a larger group of diseases called primary cilia dyskinesia. Primary cilia dyskinesia is the new name for immotile cilia syndrome. The name change was due to the fact recent studies have found that the cilia in these patients are actually not completely paralyzed but rather they move very poorly. The difference between Kartagener and other primary cilia dyskinesia syndromes is the placement of the heart. Those with the heart in normal position are simply categorized as having primary cilia dyskinesia syndrome while those with abnormally placed hearts have true Kartagener syndrome.
The causes of primary cilia dyskinesia syndrome and cystic fibrosis are completely different. However, the symptoms of these two diseases are quite similar. In fact, these children are almost always first tested for cystic fibrosis because it is a much more prevalent disease with such similar symptoms as primary cilia dyskinesia. Both cause sinusitis, difficulty in clearing secretions from the lungs, and possible infertility. Both are treated similarly as well. Daily chest physiotherapy (slapping of the back and other techniques to help loosen secretions) is a common therapy in both diseases. In addition, sinus surgery is common for both to relieve sinusitis and the nasal polyps that may be present. The severity of both these two diseases is rather variable as well. There are some that have very significant lung disease while others have very little trouble. The difficulties children with primary cilia dyskinesia have is dependent upon how abnormally affected their cilia are.
Nancy, I am sorry to hear of your boys' condition. However, the function of the lungs in those with primary cilia dyskinesia usually does not decline nearly as fast as those with cystic fibrosis. In addition, with adequate therapy, life expectancy is usually normal. It will be important for you to keep in contact with your Pediatric Pulmonary specialists to maintain good follow-up and treatment. Nancy, I searched high and low for a support group involving parents of those with this syndrome, and like you, came up short. There is one organization that has additional information on Kartagener syndrome and may be able to help you find other families with these children:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone: (914) 428-7100
Fax: (914) 997-4763
Toll Free: (888) 663-4637
TDD: (914) 997-4764
Home Page: http://www.modimes.org/
Good luck to you.
Editor's note: You may also want to try posting a message on one of ParentsPlace.com's message boards to see if other community members know of a support group.Answer: