|APR7B gene analysis, Wilson-Conovalov disease
|Price 25'000 tenge
Wilson-Conoval disease (hepatocerebral dystrophy).
Biomaterial: venous blood Time frame : 14 working days
Autosomal recessive disease (carrier 1 in 90 people), the metabolism of copper is disturbed and there is an increase in its concentration in various organs: the brain, kidneys, liver and cornea . It manifests itself at the age of 10-25 years, more often at school age (10-16 years) in the form of liver damage, at a later age in neurological disorders; b/c ceruloplasmin is reduced; on eye examination, Kayser-Fleischer pigmented rings on the iris. Analysis is needed for accurate diagnosis (mutations in the ATP7B gene encoding the copper-transporting adenosine triphosphatase protein).
If treatment is not begun in time to remove toxic excess copper from the body, the patient is doomed to die in 5-7 years. The disease affects 25% of siblings in a family with clinically healthy parents who are carriers of the abnormal gene (autosomal recessive type of inheritance). Only those individuals who inherit two mutant genes, that is, one from each mother and one from each father, are homozygous mutation carriers; individuals who receive a mutant gene from one parent and a normal gene from the other are heterozygous mutation carriers and remain healthy.
Signs and symptoms of Wilson-Conovalov disease
Liver damage with excess "free" copper is manifested by cirrhosis of the liver. Brain damage leads to the development of severe neurological symptoms: trembling limbs and the entire trunk, increased muscle tone, sometimes accompanied by painful spasms, speech disorders, swallowing, decreased intelligence. Deposition of copper in the cornea (along the edge of the iris) causes the formation of a Kayser-Fleischer ring, a brownish-greenish pigment. The diagnosis of the disease can be made unmistakably by this sign.
Treatment and prevention of Wilson-Conovalov disease
Treatment of Wilson-Conovalov disease is lifelong and is mostly performed as an outpatient. It is complex and includes non-pharmacological methods, medical methods - taking drugs that reduce copper deposition in the body, as well as surgical methods in advanced cases of the disease.
First of all, a patient with Wilson-Conovalov disease should give up alcohol and the use of drugs toxic for the liver, and follow a diet aimed at limiting copper intake into the body. For this purpose, it is necessary to exclude products with high copper content: mutton, pork, salmon, seafood, nuts, mushrooms, dried fruits, rye bread, potatoes, milk chocolate, cocoa and mineral water. If possible, use demineralized water and do not cook food in copper cookware.
Medication treatment for Wilson-Conovalov disease is prescribed from the moment the diagnosis is established and consists of continuous administration of drugs that bind copper in the body and reduce its concentration in the blood. Medication treatment is prescribed only after consultation with a doctor, who will help select the right dose of the drug. If Wilson-Conovalov disease continues to progress despite conservative treatment and cirrhosis develops, liver transplantation may be necessary.
There is currently no specific prevention of Wilson-Conovalov disease. Taking into account the hereditary nature of the pathology, all family members of the patient should be examined, especially future parents. Clinical examination of relatives of a patient with Wilson-Conovalov disease, examination of copper metabolism in the body using the above mentioned laboratory methods, as well as corneal slit-lamp examination is performed. If in doubt, a liver puncture biopsy is performed and the copper content of the sample obtained is determined. Genetic testing is also recommended for all relatives of a patient with Wilson-Conovalov disease.