Everything you need to know about Wilson Disease About Wilson Disease Wilson disease is a genetic disorder that is fatal unless detected and treated before serious illness from copper poisoning develops. Wilson disease affects approximately one in 30, people worldwide.
The gene codes for a P-type cation transport enzyme ATPase that transports copper into bile and incorporates it into ceruloplasmin.
Ten percent have no detectable mutation. Relatively little is known about the relative impact of various mutations, although the HQ mutation seems to predict later onset and predominantly neurological problems, according to some studies.
This gene produces prion proteinwhich is active in the brain and other tissues and also appears to be involved in transporting copper.
In order to inherit it, both of the parents of an individual must carry an affected gene. Most have no family history of the condition. All can cause cirrhosis at a young age.
The other members of the group are Indian childhood cirrhosis ICCendemic Tyrolean infantile cirrhosis and idiopathic copper toxicosis. These are not related to ATP7B mutations: A transporter protein on the cells of the small bowelcopper membrane transporter 1 Ctr1; SLC31A1carries copper inside the cells, where some is bound to metallothionein and part is carried by ATOX1 to an organelle known as the trans-Golgi network.
Here, in response to rising concentrations of copper, an enzyme called ATP7A releases copper into the portal vein to the liver. Liver cells also carry the CMT1 protein, and metallothionein and ATOX1 bind it inside the cell, but here it is ATP7B that links copper to ceruloplasmin and releases it into the bloodstream, as well as removing excess copper by secreting it into bile.
Copper accumulates in the liver tissue; ceruloplasmin is still secreted, but in a form that lacks copper termed apoceruloplasmin and is rapidly degraded in the bloodstream. The liver also releases copper into the bloodstream that is not bound to ceruloplasmin.
This free copper precipitates throughout the body but particularly in the kidneys, eyes and brain. In the brain, most copper is deposited in the basal gangliaparticularly in the putamen and globus pallidus together called the lenticular nucleus ; these areas normally participate in the coordination of movement as well as playing a significant role in neurocognitive processes such as the processing of stimuli and mood regulation.
Most have slightly abnormal liver function tests such as a raised aspartate transaminasealanine transaminase and bilirubin level. If the liver damage is significant, albumin may be decreased due to an inability of damaged liver cells to produce this protein; likewise, the prothrombin time a test of coagulation may be prolonged as the liver is unable to produce proteins known as clotting factors.
The gold standard —or most ideal test—is a liver biopsy. In many cases, however, further tests are needed. This is assessed microscopically for the degree of steatosis and cirrhosisand histochemistry and quantification of copper are used to measure the severity of the copper accumulation. In more advanced disease, the changes observed are quite similar to those seen in autoimmune hepatitis, such as infiltration by inflammatory cells, piecemeal necrosis and fibrosis scar tissue.
In advanced disease, finally, cirrhosis is the main finding. In acute liver failure, degeneration of the liver cells and collapse of the liver tissue architecture is seen, typically on a background of cirrhotic changes. Histochemical methods for detecting copper are inconsistent and unreliable, and taken alone are regarded as insufficient to establish a diagnosis.
Once a mutation is confirmed, it is possible to screen family members for the disease as part of clinical genetics family counseling. Since mutations of the WD gene vary between populations, research and genetic testing done in countries like the USA or United Kingdom can pose problems as they tend to have more mixed populations.
Some increase the removal of copper from the body, while others prevent the absorption of copper from the diet. Generally, penicillamine is the first treatment used.
This binds copper chelation and leads to excretion of copper in the urine. Hence, monitoring of the amount of copper in the urine can be done to ensure a sufficiently high dose is taken. Penicillamine is not without problems:Essay the wilsons disease - The Wilson’s Disease The Wilson’s disease is a genetic disorder of the thirteenth chromosome.
This disease is an inherited disease and it is mostly likely to be in all of the offspring if a parent had it. Wilson's Disease: The Effects of Copper Toxicity in the Body Words 11 Pages Dr. Samuel Alexander Kinnier Wilson was a British neurologist who first described a .
Wilsons disease is a relatively rare hereditary condition in which excessive amounts of copper accumulate in the body. Small amounts of . Wilsons disease Essay Kenzi Rentmeister Bio April 22, Disease fact sheet What is Wilson disease?
Wilson disease is a genetic disorder that prevents the body from getting rid of extra copper. A small amount of copper obtained from food is needed to stay healthy, but too much copper is poisonous.
Wilsons Disease Essays: Over , Wilsons Disease Essays, Wilsons Disease Term Papers, Wilsons Disease Research Paper, Book Reports. ESSAYS, term and research papers available for UNLIMITED access Order plagiarism free custom written essay Wilsons Disease Wilson's Disease is a genetic disorder that is fatal unless .
Essay the wilsons disease - The Wilson’s Disease The Wilson’s disease is a genetic disorder of the thirteenth chromosome. This disease is an inherited disease and it is mostly likely to be in all of the offspring if a parent had it.
It is the unnecessary increase of copper in the liver and brain.