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Currently, young people are often observed in the behavior of a variety of disorders. Some have seen hyperactivity , While others - attention disorders , The third - hypersexuality or emotional instability , The fourth - noncriticality . Such disturbances in the behavior of the parents of young people, and behind them - and doctors often attribute " puberty "That scientifically called Puberty . This period is usually seen in girls aged 12 to 16 years and young people aged from 13 to 17 years.
If time passes, puberty in girls and boys over, but signs of "disease of adolescence" remain, or on the contrary, strengthened, it is a symptom of a different, more serious diseases. Typically, the disease causes decline in academic performance both at school and then in high school, especially in the first year, and parents every day more and more difficult to make contact with her had grown up "child." At the same time young men and women often swearing and rude senior, often talking in a raised voice, sometimes break into a cry, and the situation may be complicated by the departure of a teenager from home.
If the young man's speech becomes slurred often observed incoordination, tremors uncharacteristic body dystonia Manifested in the form of bizarre movements of the limbs, symptoms already show the need for early treatment to neuropathologist .
The disease was first diagnosed in the early twentieth century in the Western world its first described the symptoms of scientists and researchers AK Wilson And in domestic medicine research so unusual neurological disease studied NA Konovalov By the name of which has been called an illness. Abnormal gene that appears in the body of the patient and provoking Wilson's disease Was discovered relatively recently, only in 1993.
The disease, a study by Wilson and Konovalov, due to the mutation Which often leads to a lowering of protein concentration in the blood tserruloplazmina Responsible for portability Copper . This leads to an insufficient supply of copper every cell of the body, and its non-uniform concentration in a particular part of the body. If the human body accumulates excess amounts of copper, suffer from it lenticular nucleus of the diencephalon and liver .
Symptoms of the syndrome Wilson
The manifestation of Wilson's disease may be twofold, especially differs significantly debut in each of the two forms. If the pathology affects the liver, the patient may develop later cirrhosis And, if the form of the neurological syndrome Wilson affected cerebellum and cortex . basal ganglia . For the neurological form of the disease Wilson's characteristic manifestations tremor and grimacing, choreiform movement of the limbs, the emergence of ataxia, some patients are often observed seizures .
Option Wilson's disease that affects the liver, usually starts to develop in teenagers with only the age of eleven. The neurological form usually appears after the age of nineteen, when puberty is already over, but some patients Wilson's disease does not develop in the young, and in Pension or pre-retirement age .
Neurological and hepatic disorders at the same time are shown with respect to the same frequency, in the absence of modern medical therapy in patients with rapidly evolving both forms of pathology. Typically, the initial stage of Wilson's disease, characterized by a mental disorders , But even a long psychiatric treatment is ineffective and futile. Quite often, the debut of the disease is characterized by such symptoms of Wilson's how fever and joint damage , The occurrence of hemolytic anemia .
The overabundance of copper in the body, characteristic of Wilson's syndrome causes such comorbidities as diabetes and cirrhosis of the liver . aneurysm - Pathological changes in blood vessels, Fanconi's anemia , Manifestations of which resemble rickets While atherosclerosis is developing rapidly.
Diagnosis of the syndrome Wilson
To identify the syndrome Wilson to do detailed blood test To check the level of the body Copper . ceruloplasmin . Zinc . But for high-quality diagnostic blood test is not enough, because often all the accumulated copper accumulates in the body are not in the blood, and deep in the tissues and in the blood of its amount, by contrast, considerably lower than the norm. Patients suffering from hepatic form of Wilson's syndrome, often stand out so-called hepatic enzymes If by that time it had been a violation of the kidneys. Symptoms of the syndrome Wilson's manifest appearance and visual impairment corneal rings , Which can detect the presence of only ophthalmologist indicates an excess of copper in the body.
Treatment of Wilson's syndrome
For the treatment of Wilson's syndrome are now actively used D - penicillamine As known and called kuprenil . The effectiveness of treatment is possible only with therapy aimed at reducing copper in the body, started in the early stages of development Wilson syndrome , With advanced forms of the disease can not be the full treatment.
To prevent its further development requires regular monitoring, which allows to correctly identify the content in the body of zinc, copper and ceruloplasmin levels. The need for regular diagnosis of Wilson's syndrome, examined by a doctor must accompany a timely blood sampling on the biochemical and general analysis, the patient needs constant supervision of the physician and neurologist.
Most patients with the syndrome, regular treatment syndrome Wilson's conduct drug D-penicillamine It helps to feel almost normal, lead a full life, even to work. But the consumption of the drug in some patients accompanied by side effects such as lupus-like syndrome ( systemic lupus erythematosus ) of nausea . nephrotic syndrome . pemphigus .
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