 |
NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Thursday, July 29, 2010
|
|
|
NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Thursday, July 29, 2010
|
Inherited Disorders and Birth Defects |
Transposed organs and A Lack of Silia09/18/2003 |
My brother and I were born with a defect in which our organs such as the heart, appendiz and lungs were transposed, (on the wrong side of the body). I have had chronic asthma and frequent pneumonia all my life and was told that people with such a condition lack the right amount of silia in their lungs. Can you tell me a little bit about this condition because all my doctors have known very little about this.
It sounds like you are describing a genetic syndrome known as Kartagener syndrome. This is a hereditary disorder that includes situs inversus (where the organs are on the opposite side of where they should be), sinusitis, bronchiectasis (a disorder of the lungs) and infertility in males. Kartagener syndrome is part of a larger group of diseases called primary cilia dyskinesia. The problems seen in Kartagener are due to changes (mutations) in the genes that make or help cilia function correctly. Cilia are the millions of tiny microscopic tubes that line the cells of the nose, sinuses, and lungs. They beat constantly moving dust and other contaminants along and out of the way. If these tubes do not function properly or are missing, dust and dirt particles can sit where they are and set up infections (sinusitis) and cause chronic problems such as in the lungs (bronchiectasis). Pneumonias, asthma and other respiratory problems are common in this disorder. The reason the heart and organs can be on the wrong side – that is, the heart on the right instead of being on the left, etc., is that there are cilia necessary during fetal development to move the organs into the right places. If these cilia are abnormal or missing – then the organs do not move into their correct placement. Kartagener syndrome is inherited as an autosomal recessive disorder. People have two genes for each genetic trait. You inherit one from your mother and one from your father. Many genetic disorders do not cause any problems as long as one of the pair of genes is functioning normally – the person has one normal and one abnormal gene. This person would be called a carrier. However, if the parents both are carriers - have the gene change (mutation) that causes a specific disease, and they both pass that abnormal gene on to their child – then the child is affected. If both parents are carriers for Kartagener syndrome – they would both be normal, but they have a 25% chance to both pass the gene causing Kartagener syndrome on at the same time. It sounds like this is what may have happened in your family since both you and your brother each have this problem. Currently, scientists do not know the specific gene that causes Kartagener syndrome but there is research taking place to be able to find the gene.
|
Anne Matthews, RN, PhD Director, Genetic Counseling and Family Studies Associate Professor Department of Genetics School of Medicine Case Western Reserve University |
|
|
|
Please note: only your personal physician or other health professional you consult can best advise you on matters of your health based on your medical history, your family medical history, your medication history, and how information from any of these databases may apply to you. Neither University of Cincinnati (NetWellness) nor any party involved in creating, producing or delivering this web site shall be liable for any damages arising out of access to or use of this web site, or any errors or omissions in the content thereof. (More) 
|