Wilsons Disease – History And Treatment-www.ppp444.com

Health Not many people are aware about the ge.ic disorder of Wilson’s disease which affects around 50,000 to 100,000 worldwide. The cause of this disorder is the abnormal changes known as mutation in the genes which may be inherited as autosomal recessive trait and the diseased gene known as ATP7B gene is responsible for Wilsons disease. These kinds of recessively transmitted disorders manifest themselves in those people (homozygotes) who inherit two copies of the genes from the father as well as the mother. The siblings of those diagnosed may have 25% chances of having the disorder. Those individuals who inherit a single copy of the disease gene (heterozygotes) may transmit a single copy to their children, but that happens only 1 in 90-100 people. Though ge.ic testing is not yet possible for Wilson disease, there is a type of analysis called haplotype which helps in determining carrier status in families who are known to have mutations of the gene. The diseased gene is known to transport copper in the body and this disorder is thought to be related to the incapability of the body to produce an enzyme related to transportation of copper. Ceruloplasmin is an enzyme in the blood’s fluid portion that binds to copper and is associated with its regulation and transportation. The theory behind less production is that the liver may be defected so it is unable to metabolize or break down copper. However, there is no relation found between excess accumulation of copper and reduced production of ceruloplasmin in the body. Wilson’s disease is diagnosed by lab tests and various findings and procedures like constant urinary copper excretion of more than 100 mgs, low serum copper levels, abnormally low serum ceruloplasmin levels, increased levels of copper in the liver for which, tissues are obtained for testing through surgical biopsy of the liver, presence of Kayser-Fleischer rings – are golden or greenish-brown rings around the cornea and their presence is determined by a special test called slit-lamp examination. It is very important to detect this disorder early as the liver may damage with copper accumulation before the symptoms start manifesting. Even the relatives and family of the diseased individual should undergo testing and screening, even if no symptoms are shown. The screening tests consist of evaluation of serum ceruloplasmin levels and urinary copper output. The treatment options for this disorder may include drug therapy. One should also search for other online medical products helpful for this disorder. Drug therapy helps in the removal of excess copper and prevention of current copper accumulation and deposition. Drug therapy is a lifelong process and disruption in it may result in irreversible .an damage or pose a threat to life. About the Author: 相关的主题文章: