Wilson's disease - Causes, Symptoms and Treatment .MF .
Among young people frequent a variety of behavioral disorders (disorders of attention, hyperactivity, emotional instability, hypersexuality, uncritical) that their parents and doctors are often blamed on "transitional age" or, scientifically Therefore, puberty, which takes place from 12 to16 years of age in girls and 13 to 17-18 years in boys.X would be watered all ended with "growing pains", but - there is a time and pay attention to parents that their "offspring" symptoms persist and intensify.Reduced performance in school, and the parents themselves all the more difficult it becomes to get in touch with a loved child of - rude, filthy, often breaks down to cry, out of the house ... may appear shaking (tremor), incoordination, bizarre movements of the limbs (dystonia)it becomes slurred speech.Upon detection of these symptoms are the surest way - a neurologist, but often find that path takes too much time.
The disease was first described in 1912 AKWilson, in our country - NAKonovalov.In 1993 g. abnorm
Wilson's disease is associated with a mutation leading to a decrease in the blood concentration of copper belka- perenoschika- tserruloplazmina.As a result, violated the normal distribution of copper - it accumulates in the body too much, and it's more likely to suffer liver and midbrain (the so-called lenticular nucleus).
consider two variants of the disease debut Vilsona- Konovalova: hepatic (liver cirrhosis) and neurological (mainly affecting the basal ganglia, cerebral cortex and cerebellum, neurological manifestations presented tremor, choreiform limb movements, grimacing, ataxiacan develop epileptic seizures).In a first embodiment, the disease usually begins at age 11, in the second embodiment, in the 19th, but sometimes the disease can manifest itself in the 6 decade of life.Hepatic and neurological disorders occur with approximately the same frequency and in the absence of treatment, patients eventually developing both types of pathologies .. The disease is in the initial stages can occur only mental disorders - patients can be treated for a long time to no avail, and a psychiatrist.The debut of the disease as possible with joint disorders, fever, hemolytic anemia.
should be taken into account that excessive content of copper in the body of the patient leads to cirrhosis of the liver, impaired glucose tolerance (diabetes mellitus), abnormal expansion in a particular vessel (aneurysm), development rahitopodobnyh disease (syndrome Fanconi), accelerated developmentatherosclerosis.The disease must be distinguished from multiple sclerosis and juvenile forms of Huntington's chorea.
etiology of Wilson's disease
disease associated with a mutation leading to a decrease in the blood concentration of copper belka- perenoschika- tserruloplazmina.As a result, violated the normal distribution of copper - it accumulates in the body too much, and it's more likely to suffer liver and midbrain (the so-called lenticular nucleus).
reasons for Wilson's disease
disease is associated with a mutation leading to a decrease in blood concentrations of copper belka- perenoschika- tserruloplazmina.As a result, violated the normal distribution of copper - it accumulates in the body too much, and it's more likely to suffer liver and midbrain (the so-called lenticular nucleus).
Diagnosing Wilson's disease
diagnosis of Wilson's disease - Konovalova based on a determination of blood ceruloplasmin, copper and zinc.There is a diagnostic paradoks- in the analysis of blood revealed decreased concentrations of copper, due to the fact that copper, ceruloplasmin devoid belka- perenoschika- quickly goes to the tissue.A certain importance is also the concentration of zinc, if effective treatment of its concentration in the blood rises.In connection with damage to the liver and kidneys can be observed increase in hepatic enzymes, aminoaciduria (a condition associated with increased release of amino acids in the urine due to renal impairment due to the accumulation of copper in them).In the study of liver biopsy revealed high content of copper and signs of cirrhosis).An important diagnostic feature is a brownish obaruzhenie ophthalmologist bilateral corneal rings, the origin of which is associated with the deposition of copper.This so-called symptom Kayser Fleischer - it is found in almost all patients with the disease-Konvalova Wilson.
Treatment of Wilson's disease
Many years have passed after the discovery of the disease, before the facility was found to combat this illness - a medicine that reduces the concentration of copper in the body - D - penicillamine (kuprenil).
Lifestyle disease Wilson's
medsnizhayuschaya if therapy is started early in the disease for minor manifestations of neurological status of patients defitsita- fully normalized;in severe cases, unfortunately this is not happening.
concentration monitoring ceruloplasmin, copper and zinc in the patient's blood should be carried out several times a year.It is also necessary to satisfy the general and biochemical blood tests, observation of the neurologist and the therapist.
Permanent taking the drug provides a normal, full-fledged standard of living in most patients.Most people continue to work, to lead an active life.Externally, such a person does not differ from healthy.Although therapy may be associated with side effects: nausea, nephrotic syndrome, myasthenia gravis arthropathy, pemphigus, various neurological disorders, lupus-like syndrome.
Timely diagnosis and prescription of treatment in patients with Wilson's syndrome - is the key to a long and fruitful life.