Wilson disease is an autosomal recessive genetic disease whose clinical manifestations are based on the accumulation of copper in the first level of the liver and brain.
In Italy the disease Rare Disease Wilson “MR” Ministerial Decree No. 279 recognized in 2001; 30,000 and 1: 1 between the estimated incidence of 100,000, well in Sardinia because of the island and the incidence of the disease reaches higher levels, around 1. 8000-9000
Genetic modification, Wilson’s disease, mutation of the gene ATP7B (now know about 300 mutations).
The “defective” gene is located on chromosome 13 and is for encoding a Silega for copper transport protein; It is expressed in particular be primary and in the liver and is introduced essential for the biliary excretion of excess copper with food.
In Wilson’s disease, the defective gene does not contribute to produce this protein, called ceruloplasmin and therefore has a “reduction of biliary excretion of metal, resulting in the toxic accumulation in the liver, brain, eyes, and more rarely in the heart, kidneys and so on.
the age of onset is very diverse and can range from child to adulthood; the diagnosis is between 20 and 30 years that the symptoms may be more questions.
The main clinical manifestations have their liver and brain.
Liver disease is highly variable: the occasional hepatomegaly report hypertransaminasemia apatite or chronic, cirrhosis and acute liver failure.
The demonstration of the brain, may include: neurological symptoms with movement disorders (dysgraphia, dysphagia, dysarthria), postural tremor and ataxia manifestations of Parkinson conipocinesia, rigidity and resting tremor. Other events involved in the central nervous system of psychiatric character with behavioral disorders, depression, lack of concentration, loss of emotional control hallucinations and delusions. Another symptom is usually associated with neuropsychological symptoms, visual aid can with the appearance of “Kayser-Fleischer ring visible integrated with a slit lamp.
Very rare (bone lesions), problems may be hemolytic, endocrinological or heart disease or kidney disease found skeletal abnormalities.
The diagnosis of Wilson’s disease usually gets advanced symptoms, although much could be done to look for asymptomatic patients, to avoid delays in routine drug treatment.
Clinical studies for the definition of Wilson’s disease are:
ceruloplasmin blood dose and copper (cupremia);
Consultation Ophthalmology Slit lamp;
Determination of copper in the urine within 24 hours (cupruria) with and without chelating (Penicellamina);
liver biopsy with quantitative research on the dry weight of the liver, intra-copper;
The molecular diagnostic gene on chromosome 13 ATP7B.
At present, there are drug treatments to reduce the amount of movement is designed in copper, and accumulation in the tissues is reduced. Drug therapy is the use of certain chelating agents that act promoting the removal of metals in the liver and other tissues, through urine. Chelators such as poor tolerance penicellamina trientine or is likely to treat patients with advanced symptoms. In asymptomatic or dimantenimento therapy can be used such as zinc, which is in the gut, stimulates the production of metallothionein, copper and promotes excretion joined by feces. Hence, the need to diagnose and treat Wilson’s disease in childhood, when the symptoms are poorly, if not completely absent.
A final consideration should be made on the eating habits of patients with Wilson’s disease; In fact, it is good, all these foods with high copper content (calf liver, meat, oysters, chocolate, nuts, some fruits, mushrooms, beans and different types of vegetables, etc.) to avoid, but would also be useful to assess the extent possible, the amount of copper, such as certain types of mineral water or a local water supply, the water we drink 1 mg / l of metal high rate also contains equal.