$Unique_ID{BRK03893} $Pretitle{} $Title{Kartagener Syndrome} $Subject{Kartagener Syndrome Kartagener Triad Situs Inversus, Bronchiectasis and Sinusitis Dextrocardia, Bronchiectasis and Sinusitis Siewert Syndrome Chronic Sinobronchial Disease and Dextrocardia Primary Ciliary Dyskinesia Immotile Cilia Syndrome Fibrosing Alveolitis Bronchiectasis, Congenital and Acquired } $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 526: Kartagener Syndrome ** IMPORTANT ** It is possible the main title of the article (Kartagener Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Kartagener Triad Situs Inversus, Bronchiectasis and Sinusitis Dextrocardia, Bronchiectasis and Sinusitis Siewert Syndrome Chronic Sinobronchial Disease and Dextrocardia Primary Ciliary Dyskinesia Information on the following diseases can be found in the Related Disorders section of this report: Immotile Cilia Syndrome Fibrosing Alveolitis Bronchiectasis, Congenital and Acquired General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Kartagener Syndrome is a genetic disorder combining three major symptoms. These include chronic enlargement of the bronchial tubes (bronchiectasis), chronic inflammation of the lining of the sinuses (sinusitis), and abnormal cross-positioning of body organs during prenatal development (situs inversus). Symptoms Kartagener Syndrome begins before birth and is characterized by three major symptoms: chronic enlargement of the bronchial tubes (bronchiectasis), chronic inflammation of the lining of the sinuses (sinusitis) and abnormal cross-positioning of body organs during prenatal development (situs inversus). Symptoms usually become apparent during early infancy and continue into adulthood. Chronic sinusitis occurs, caused by an inability to clear mucous from the sinuses. Hearing loss can occur in some cases because of recurrent ear infections and possible inner ear abnormalities. Poor clearance of mucous from the lungs often leads to development of coughing and chronic bronchitis. Bronchiectasis may then develop because of recurrent infections over a period of two to three years. Situs Inversus can be detected by X-rays. Sterility among males affected by Kartagener Syndrome may occur, because sperm are unable to migrate normally from the testes. Female fertility may be reduced due to inadequate movement of the egg from the ovary through the fallopian tube. Heart problems among Kartagener patients may be present, particularly if the situs inversus is incomplete. Causes Kartagener Syndrome is inherited as an autosomal recessive trait with incomplete penetrance. Incomplete penetrance of a gene means that all characteristics of a particular trait may not be manifested in all those who inherit the defective genes. Thus, some cases may be mild and some severe. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Kartagener Syndrome is found in all races and is estimated to affect approximately 1 in 30,000 to 60,000 individuals. Related Disorders Symptoms of the following disorders can be similar to those of Kartagener Syndrome. Comparisons may be useful for a differential diagnosis: Immotile Cilia Syndrome is a form of ciliary dyskinesia. It is also known as Polynesian Bronchiectasis. This disorder primarily affects New Zealand Maoris and Samoan Islanders. Bronchial tube problems are accompanied by abnormalities of the cell lining structures (cilia) which limit their normal mobility. However, cilia abnormalities are different from those of Kartagener Syndrome which can be identified through laboratory tests. Fibrosing Alveolitis is an inflammatory lung disorder characterized by abnormal formation of fibrous tissue between tiny air sacs (alveoli) or ducts in the lungs. Coughing and rapid, shallow breathing occur with moderate exercise. The skin may appear slightly bluish (cyanotic) due to lack of circulating oxygen. Complications such as infection, emphysema or heart problems may develop. (For more information on this disorder, choose "Alveolitis" as your search term in the Rare Disease Database). Bronchiectasis (Congenital and Acquired) are relatively rare disorders in which the bronchial tubes are enlarged due to a variety of causes. The congenital form is due to a prenatal developmental abnormality. Bronchiectasis may also be caused by Pneumonia, Cystic Fibrosis, chronic Bronchitis, Sinusitis, Emphysema, Measles, Silicosis, lung abscess, lung cancer, or breathing foreign substances into the lungs. (For more information on Cystic Fibrosis, Silicosis, Bronchitis, Measles, or rare forms of pneumonia or other lung conditions, please choose the appropriate name as your search term in the Rare Disease Database). Persistent coughing may be dry in some cases, or can produce large amounts of thick, foul smelling sputum in others. Coughing is caused by an accumulation of mucous in the breathing tubes, which also increases the possibility of infection and inflammation of lung tissues. Inflammation may affect parts of one or both lungs. Only rarely is an entire lung involved. Treatment with antibiotic drugs may be helpful in controlling symptoms and preventing complications. Without treatment, the bronchial walls may deteriorate and spread infection. Therapies: Standard In most cases of Kartagener Syndrome, daily postural drainage treatments are necessary. This requires the patient to lie down in a prone head-down position which drains the lower back sections of the lungs. The position can be modified when treating other sections of the lung. In some cases, surgery may be necessary to correct abnormal systemic circulation. Antibiotic therapy should be started when fever and systemic symptoms occur, and should be monitored carefully by a physician. Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through June 1988. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Kartagener Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 American Lung Association 1740 Broadway New York, NY 10019 (212) 315-8700 NIH/National Heart, Blood & Lung Institute (NHLBI) Office of Public Inquiries 9000 Rockville Pike Bethesda, MD 20892 (301) 496-4236 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References This Rare Disease Database entry is based upon outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics, and the following articles: MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1060-1061, 1071-1072. INTERNAL MEDICINE, 2nd Ed.: Jay H. Stein, ed.; Little, Brown and Co., 1987. Pp. 691. KARTAGENER'S SYNDROME WITH MOTILE CILIA AND IMMOTILE SPERMATOZOA: AXONEMAL ULTRASTRUCTURE AND FUNCTION: L.J. Wilton, et al.; Am Rev Respir Dis (December 1986, issue 40(4)). Pp. 1233-1236.