General characteristics of the disease
Wilson's disease, she hepatocellular degeneration or hepatolenticular degeneration - one of the rare and severe genetic diseases. It is transmitted in an autosomal recessive manner. This means that inheritance Wilson's disease, both parents must have the child ATP7B mutant gene in the chromosome 13 pair.
Wilson's disease manifests itself in childhood or adolescence and is characterized by the accumulation of copper in the body. This leads to the development of hepatic insufficiency and various neuropsychiatric disorders.
There are forms of Wilson's disease with a primary lesion of the liver, central nervous system, or mixed forms of the disease. At the same time the symptoms of liver disease in patients seen in the age of 10-15 years, and neurological symptoms of the disease Wilson formed closer to 20 years.
Wilson's disease occurs in an average of 3 cases per 100 thousand. People. The carriage of the mutated gene that causes the disease is diagnosed in approximately 0, 6% of the population. The increased likelihood that both parents are carriers of the gene, there is a closely related to marriages.
In the development of Wilson's disease can be divided into two stages: latent stage and clinical manifestations of the disease. Up to 5 years, as a rule, the disease does not manifest itself, and only closer to 7 years in a patient is significantly increased levels of liver enzymes - transaminases.
Start of Wilson's disease can be acute or develop a fever, asthenia and sharp yellowing of the skin caused by excess copper in the body. Further, the disease progresses to steatosis (fat accumulation in the liver) and liver failure.
Neuropsychiatric manifestations of Wilson's disease are also associated with deposits of copper in the body. These include speech disorders, mild facial expressions, excessive salivation, tremors, loss of coordination of movements. Intelligence at Wilson's disease is completely retained, but the patient has an impulsive behavior, aggressive reaction and manifestation of numerous phobias.
Along with liver disease Wilson affects the kidneys, heart, bones, joints. At the last stage of the disease in the absence of adequate treatment, the patient goes into a coma.
Diagnosis of Wilson's disease
The initial stage of diagnosis of Wilson's disease is a physical examination. Already during a probable sign of the disease is a typical symptom for the disease - Kayser-Fleischer ring. It is a yellow-brown stroke on the periphery of the cornea.
The next stage of the diagnosis of Wilson's disease - laboratory tests of blood and urine of the patient. The preliminary diagnosis is confirmed by finding elevated levels of liver enzymes and a daily selection of copper in the urine.
By instrumental methods of diagnosis Wilson's disease include ultrasound, MRI and CT. Thanks to them, rendered an enlarged liver and spleen (hepato-and splenomegaly), and the destruction of subcortical neural nodes in the brain.
Genetic diagnosis of the Wilson's disease is a blood test of the patient and his closest relatives to detect abnormal gene.
Treatment of Wilson's disease
Treatment of Wilson's disease symptomatically. His goal - to reduce the amount of entering the body of copper and reduction of existing stocks of copper in the body.
An important part of the treatment of Wilson's disease is a life-long diet, slimming products. It involves the complete exclusion from the diet foods rich in copper: beans, coffee, chocolate, nuts, etc.
Drug treatment of Wilson's disease by using drugs that bring the copper from the body. For this purpose, patients were administered D-penicillamine, as well as zinc salts. Drug treatment of Wilson's disease occurs on the individual scheme with a gradual increase in the dose of drugs.
Part of the therapy - regular check-ups every 6-12 months the patient, control the efficiency of the treatment of Wilson's disease with the help of physical examination, blood and urine tests, monitoring the liver and kidneys.
With the development of liver failure surgical treatment of Wilson's disease - a healthy liver transplant patients. In case of successful organ survival patient completely recovers and no longer needs a lifetime of therapy.