There are many diseases. Some of them are contagious, others are inherited. Some affect the internal organs and lead to irreversible pathological changes in their work. A rare, but very dangerous and serious disease is Wilson-Konovalov's disease.
- What is it?
- Manifestations of
- How to treat
- Forecasts and possible complications
What is it?
Wilson-Konovalov's disease is a hereditary disease that is autosomal recessive. This means that only the person who has received abnormal genes from both parents at once can get sick. If the gene was obtained from either the mother or the father, then the person will only be a carrier, but the symptoms of the disease will not appear, so treatment will not be required. But if two carriers meet, the child will be sick.
The newly discovered mutation gene that characterizes Wilson-Konovalov's disease is very important. So, he participates in the development of a special protein, responsible for transporting copper and for controlling its amount in the body. But if there are "breakdowns" in DNA, then the exchange of copper and such proteins is severely impaired. And this leads to an increase in the amount of free copper in the body. It begins to be gradually deposited in the organs. Since the liver, which produces special substances, actively participates in the metabolism of this element, it is often subjected to the most pronounced changes and damages. This makes it difficult to treat, since the destroyed liver cells can not be restored.
With this problem, copper is absorbed in the digestive organs normally, but its elimination is severely impaired. First there is a gradual accumulation in the liver, but when this organ is saturated( often it passes almost asymptomatically), Wilson-Konovalov's disease continues to progress, affecting the brain and other tissues and organs. That is why treatment should be timely and correct, which depends on timely and correctly diagnosed.
As for the prevalence of the disease, it can not be called a frequent occurrence. For example, an average of 1 to 30 patients per 100,000 population. It has been proven that the incidence rate has been increased in countries where family ties have been adopted and not prohibited( Yemen, India and others like that).But at the present stage there is a tendency to an increase in the number of patients.
Wilson-Konovalov's disease has three forms of manifestation:
- In the first case, only the liver is affected, so that this organ suffers, others are not subject to change.
- The second form involves lesions of the central nervous system.
- And the third form is mixed, because there are problems in the work and the central nervous system, liver and other organs. Treatment in this case must necessarily be complex and multifaceted.
There are also several stages:
- In the first stage, copper gradually accumulates in the liver.
- In the second stage, this element enters the bloodstream.
- On the third, copper accumulates in the brain and other organs( for example, in the cornea of the eye).
The fourth stage is the final stage. At this stage, in the absence of therapy, irreversible changes occur leading to a fatal outcome. If treatment was started on time, then the amount of this element is normalized, Wilson-Konovalov's disease at this stage is in controlled form.
Symptoms of the disease begin to appear not immediately, but already in childhood. The latent period can last about 7-8 years. Most often, the first signs are observed at the age of 6-8 to 16 years, but sometimes Wilson-Konovalov's disease makes it known much earlier( 3-4 years) or, alternatively, later( after 30 years or even 50).It depends on the way of life and human nutrition. It is clear that if copper comes in large quantities, then it will accumulate much earlier, which immediately becomes noticeable.
We list some symptoms of the disease:
- Since the liver suffers first, it is the problems in the work of this body that will provoke the development of the first manifestations. Sometimes they are listless and implicit. Slight jaundice can be observed. But in acute form, symptoms such as fever, liver failure( this can be expressed in nausea and vomiting, weakness, decrease or change in appetite), severe weight loss, asthenia, and so on can appear.
- Then, approximately to 17-20 years, Wilson-Konovalov's disease affects the brain and the central nervous system. Such manifestations as impoverishment of gestures and mimicry of a person, violations of fine motor skills, decreased reaction and attention, speech and coordination of ordinary movements, confusion, tremor will be observed. Paranoid manifestations can also begin: unreasonable fear, persecution mania and so on. In severe cases, even epileptic seizures and convulsions may occur.
- The disease can be determined even by the eyes, since copper accumulates in the cornea. This is called the Kaiser-Fleischer ring and appears as a copper-colored ring along the edge of this part of the eye. In severe forms, the entire cornea can acquire a characteristic shade.
- Symptoms extend to other organs and tissues. So, the heart suffers. There may be heart failure, rhythm disturbances.
- Nails and skin are subject to changes. There are pigmented spots, under the nails are formed blue holes.
- The musculoskeletal system suffers. In particular, spontaneous fractures are frequent, articular lesions are observed, gait is disturbed, and mobility is limited.
Wilson-Konovalov's disease may not last for a long time, so it is important to carry out all necessary diagnostic measures in time to begin treatment. Thus, the following research methods are shown:
- A thorough examination of the patient is necessary.
- The blood( the general and clinical analyzes, as well as the detection of the amount of certain substances) will certainly be taken for analysis.
Urinalysis will also be assigned( in which the concentration of copper also increases).
- DNA is analyzed to identify a mutation gene.
- Magnetic resonance imaging will be assigned to assess the state of the brain and the central nervous system, as well as other organs.
- ECG will help evaluate the performance of the cardiovascular system.
- The ultrasound of the abdominal cavity is prescribed.
- A liver biopsy is also performed.
- Radiographic study.
- Will inspect and oculist.
How to treat
It should be noted right away that Wilson-Konovalov's disease is incurable, that is, it is impossible to get rid of it forever. But adequate treatment will allow the patient to live a normal life. Therapy should be comprehensive, its main goal is to reduce the amount of copper entering the body( and it comes only with food) and the partial elimination of existing stocks. Here are some directions:
- It is necessary to change the way of life. So, from cigarettes and spirits it is necessary to refuse, as all this has a negative effect on the liver.
- It is important to follow a special diet, involving the rejection or reduction of the amount of foods with a high copper content. These include pork, lamb, meat of almost any bird, seafood( in particular squid, crab, lobster, scallops and mussels), almost all types of sea fish( salmon, chum, and others), giblets( liver, heart, lungs), soy products, mushrooms, dried fruits, nuts, beans( beans, lentils, peas), potatoes, cocoa and chocolate, avocado, millet, grain bread and others. You can not cook in a copper pot!
- It is absolutely necessary to carry out and medicamental treatment. Wilson-Konovalov's disease may imply the administration of drugs such as Kuprenil or Trientin. They are chelates of copper, that is, they contribute to its excretion along with urine. Doses depend on the concentration of this element. When the required amount is reached, the dosage is reduced. If "Kuprenil" is used( it, by the way, has a number of side effects), then you need to take and "Pyridoxine".Some zinc preparations are also used, for example, zinc sulfate. It allows you to make copper non-toxic.
- If Wilson-Konovalov's disease is severe and the changes are so obvious that the work of the organs is severely disrupted, an operation can be prescribed. Depending on the specific problems and pathologies, it can be liver transplantation, intracranial shunting and others.
Forecasts and possible complications of
As it was written here, Wilson-Konovalov's disease is incurable, but with competent therapy one can achieve a decrease in severity and even complete disappearance of symptoms. But supportive measures throughout life are required, which will allow monitoring the condition and normalize the body's functioning. In this case, a person can live normally: work, have children( and healthy, provided a partner is not a carrier), serve himself and so on. Yes, you need a constant intake of medication, but this is the price of life, and quite worthy.
If Wilson-Konovalov's disease is not treated, then it will continue to progress and lead to sad consequences: liver cirrhosis, multiple brain and CNS lesions, diseases of the cardiovascular system, complete immobility of the limbs and so on. In this case, a fatal outcome is inevitable, unfortunately.
We can only add that Wilson-Konovalov's disease is not a verdict. You can live with it. But let the health problems are less common on your way.