The storage of undigested complex sugar molecules in connective tissues results in abnormalities in bones, joints and ligaments. Skeletal and connective tissue complications This in turn can result in high blood pressure and narrowing of arteries in the lungs. The thickening of tissue can also cause narrowing of the aorta and other blood vessels. As the disease progresses, these conditions often become worse and typically result in heart failure. As a result, the heart and other parts of the body don't receive blood efficiently. Thickening of heart tissue can cause improper closing of heart valves. Sleep apnea, a condition in which breathing is intermittently interrupted during sleep, is often present because of airway constriction. Children often have chronic ear and sinus infections, respiratory infections, and pneumonia. Respiratory complicationsĪn enlarged tongue, thickened gums, and thickening of the nasal passages and windpipe (trachea) make breathing difficult. Complications can affect the lungs, heart, joints, connective tissue, and brain and nervous system. If the X chromosome of a male is defective, however, there isn't another normal X chromosome to compensate for the problem.Ī variety of complications can occur with Hunter syndrome depending on the type and severity of the disease.
If one of the X chromosomes is defective, their normal X chromosome can provide a functioning gene. Girls are far less at risk of developing this disease because they inherit two X chromosomes. Hunter syndrome nearly always occurs in males. But mothers aren't affected by the disease themselves and likely don't know that they have this defective chromosome. Hunter syndrome is what's known as an X-linked recessive disease, which means that women carry the defective disease-causing X chromosome and can pass it on. Hunter syndrome is caused by a defective chromosome, and a child must inherit the defective chromosome to develop the disease. There are two major risk factors for developing Hunter syndrome: A woman who is a carrier of an X-linked recessive disorder has a 25% chance of having an unaffected son, a 25% chance of having an affected son, a 25% chance of having an unaffected daughter and a 25% chance of having a daughter who also is a carrier. Women can pass down X-linked recessive disorders such as X-linked agammaglobulinemia. X-linked inheritance pattern with carrier mother
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