Wilson's disease - an inherited disorder of copper metabolism leading to excessive deposition of the latter in the internal organs (liver, cornea, brain). The basis of the disease is a violation of the separation of copper in the bile. Due to the excessive accumulation of copper increases the production of free radicals and damaged tissue.
Wilson's disease is suffering one of the 30 000 people in the world. The main role in the pathogenesis of metabolic plays copper, its accumulation in the nervous, renal, hepatic tissue and cornea, as well as damage to copper toxicity of these bodies. Metabolic disorder is expressed in violation of synthesis and decrease in the blood concentration of ceruloplasmin. Ceruloplasmin is involved in the elimination of copper from the body. The liver is formed by SKD or mixed cirrhosis. In the kidney primarily affects proximal tubules. In the brain, are affected to a greater extent the basal ganglia, cerebellum and the toothed core substantia nigra.
Wilson's disease - a hereditary disease; its symptoms often occur between the ages of 6-20 years. However, cirrhosis of the liver can be detected already in children under five years of age. On the other hand, Wilson's disease may develop in elderly patients (over 40 years), accompanied by signs of severe liver injury, but without neurological symptoms or without Kayser-Fleischer rings.
Kayser-Fleischer ring - deposition on the periphery of the cornea containing copper greenish-brown pigment - a typical symptom of Wilson's disease, the most pronounced in advanced forms of the disease. Sometimes there yellowish-brown pigmentation of the skin of the trunk and face, frequent hemorrhagic phenomena (bleeding gums, nosebleeds, positive test harness), marbling of the skin, as well as the typical nervous system.
Causes
Wilson's disease is associated with a mutation that leads to a decrease in blood concentrations of copper transporter belka- - 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).
Two variants debut Wilson's disease: liver (cirrhosis of the liver) and neurological (mainly affecting the basal ganglia, cerebral cortex and cerebellum, neurological manifestations presented tremor, choreiform movements of the limbs, grimacing, can develop epileptic seizures). In the first embodiment, the disease usually begins at age 11, the second embodiment 19, but the disease may occur occasionally and 6 decade of life. Hepatic and neurological disorders occur with approximately equal frequency, and in the absence of treatment, patients develops over time, both types of pathology. The disease is in the initial stages can occur only mental disorders - patients can be long and unsuccessfully treated by a psychiatrist. The debut of the disease as possible with joint disorders, fever, hemolytic anemia.
It will be appreciated that an excessive concentration of copper in the body of the patient leads to cirrhosis of the liver, impaired glucose tolerance (diabetes), abnormal enlargement in one or another vessel (aneurysm), rahitopodobnyh development of the disease, accelerated atherosclerosis.
The disease is transmitted in an autosomal recessive manner, due to the low or abnormal synthesis of ceruloplasmin - a protein transporting copper. The gene ATP7B, mutations that cause the disease, located on the thirteenth chromosome.
In a number of cases in isolated liver disease for diagnosis requires various laboratory parameters. Acute hepatitis
Hepatitis - the scourge of our time
Wilson's disease is indistinguishable from other acute diseases of the liver, and it is necessary to exclude young patients with a picture of acute hepatitis
Acute hepatitis - always seriously
neither A nor E. In the absence of timely treatment of Wilson's disease can cause severe brain damage, kidney failure or death.
Diagnostics
An important diagnostic feature is the detection of brown ophthalmologist bilateral corneal rings, whose origin is associated with the deposition of copper. This so-called Kayser-Fleischer symptom - it is found in almost all patients with Wilson's disease.
Histological examination of liver fibrosis determined. The disease can progress rapidly, resembling fulminant hepatic failure. A large amount of copper released from the dead cells of the liver and contributes to the development of deep hemolytic anemia complicating acute liver damage. A combination of symptoms, such as anemia, severe jaundice and relatively low activity of aminotransferases, should guard against acute course of Wilson's disease.
Excessive deposition of copper in the body caused by a genetic defect caused by a spontaneous gene mutation ATP7V. Wilson's disease can be "inherited" only if the child receives the gene from both parents. At this point it was discovered more than thirty different mutations ATP7V, so it is very difficult to develop a uniform procedure of genetic testing for the diagnosis of Wilson's disease.
However, if the family found a specific gene mutation, genetic prognosis can be made that will help to identify family members who have no symptoms, and thus begin treatment before they can be seriously affected. Timely diagnosis and prescription of treatment in patients with Wilson's Syndrome - is the key to a long and fruitful life.
Symptoms and signs
Wilson's disease manifests various symptoms. The most frequently detected signs of liver disease, hemolytic anemia and neuropsychiatric disorders, such as suicidal tendencies, depression
Depression - a little more than a bad mood
and bouts of unwarranted aggression. Women have also been irregular menstruation, amenorrhea, infertility, or the inability to tolerate pregnancy.
In most patients, irrespective of the type of disease and the initial state before the development of symptoms, it has liver varying severity. Liver damage occurs by the type of chronic hepatitis B
Chronic hepatitis - a diagnosis for life
or cirrhosis and clinically characterized by hepatomegaly, hemolytic anemia, thrombocytopenia, leukopenia. Also, there is damage to the nervous system (hyperkinesia, increased muscle tone, and \ or paralysis, athetosis, seizures, drooling, dysarthria, behavioral disorders, speech).
As already mentioned, the most characteristic feature of Wilson's disease are Kayser-Fleischer ring - brownish rings on the cornea of the eye that can detect only an ophthalmologist at the examination.
Treatment of Wilson's disease
Many years have passed after the discovery of the disease before it has been found a means to deal with this disease - a drug that reduces the concentration of copper in the body - D-penicillamine (kuprenil), which is effective in 90% of cases. Treatment penicillamine accompanied by a marked improvement in the condition of patients, or even lead to the complete elimination of symptoms. Take penicillamine should be kept at 1, 5-2 g orally daily.
It is also recommended that a diet high in vitamin B6, copper restriction to 1 mg per day - the exception of chocolate, nuts, dried fruits, cancers, liver, whole wheat.
If medsnizhayuschaya therapy is started early in the disease with minor manifestations of neurological deficit, the condition of patients is completely normal; in advanced cases, unfortunately this is not happening.
Monitoring of the concentration of ceruloplasmin, copper and zinc in the blood of the patient should be carried out several times a year. Constant reception penicillamine ensure normal, healthy 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.