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Le pronostic de la maladie de Wilson est habituellement bon, sauf en cas de maladie avancée avant le début du traitement.
Wilson's disease is brought on by a mutation inside the Wilson disease protein (ATP7B) gene. This protein transports excessive copper into bile, the place it is actually excreted in squander solutions. The problem is autosomal recessive; for individuals being affected, they must inherit a mutated copy from the gene from the two mother and father.
The excess copper can Develop up within the liver and/or Mind creating liver injury and/or neurological issues. It may collect in other areas of the human body including the eyes and also the kidneys.
Des difficulties neurologiques peuvent s'observer en next lieu. C'est lorsque le cuivre s’accumule dans le cerveau et perturbe son fonctionnement. On parle notamment de :
Copper enters the body throughout the digestive tract. A transporter protein around the cells of the compact bowel, copper membrane transporter one (Ctr1; SLC31A1), carries copper In the cells, exactly where some is sure to metallothionein and element is carried by ATOX1 here to an organelle often called the trans-Golgi community. Here, in reaction to growing concentrations of copper, an enzyme identified as ATP7A (Menkes' protein) releases copper in to the portal vein to your liver.
A standard variation in the PRNP gene can modify the program with the disease by delaying the age of onset and influencing the sort of symptoms that create.
Wilson's disease for younger people Wilson’s disease for people and family members Exactly what is Wilson’s disease? What exactly are the indicators and signs and symptoms of Wilson's disease? Metabolic pathway of copper How have I or my child obtained this issue?
Wilson disease is classed below autosomal recessive ailment. Consequently a person can only get this dysfunction when there is an inheritance of two abnormal ATP7B genes, a person from the two mom and dad (I.e. a single within the mother and One more from The daddy).
For the goal of this informative article, these signs and symptoms will probably be explained and highlights in accordance to the organ during which the symptom can be found.
Kayser Fleischer rings: This happens when There's an accumulation of copper inside the eyes. This really is witnessed being an abnormally brown ring coloured pigmentation that commences to cloud the cornea of your eyes.
Wilson disease is usually perplexed with other liver diseases including alcoholic liver disease, fatty liver disease on account of obesity, or acute liver failure because of hepatitis viruses or medicines/toxins.
La maladie de Wilson est une pathologie génétique exceptional qui est liée à une accumulation de cuivre dans l'organisme et as well as particulièrement dans le foie et le cerveau.
Pour obtenir un diagnostic médical précis et correspondant à votre cas personnel ou en savoir davantage sur votre pathologie, nous vous rappelons qu’il est indispensable de consulter un médecin.