Wilson-Konovalov's disease refers to severe congenital diseases. This ailment is associated with a violation of copper metabolism. If this pathology is suspected, doctors prescribe a blood test for ceruloplasmin. What it is? The analysis helps to determine the plasma level of a protein containing copper. This test is also prescribed for symptoms of anemia. How is the study conducted? And what indicators of analysis are the norm? These issues will be considered in the article.
Protein Description and Functions
Consider in more detail the protein ceruloplasmin. What it is? What role does this substance play in the body?
Ceruloplasmin is the only protein in the human body that contains copper. It is called sky blue squirrel. Copper atoms give it that color. This substance also has the name - 2-alpha-glycoprotein.
In the liver cells, the precursor of this protein, aceruloplasmin, is formed. By binding to copper ions, it is converted into a complete protein - ceruloplasmin. It performs the following functions in the body:
- Participates in the oxidation and reduction of iron.
- Binds excess copper.
- Increases the resistance of cell membranes to harmful effects.
- Stimulates the formation of hemoglobin.
- It takes part in the body's immune response to infection.
- Promotes the process of hematopoiesis.
- It interacts with transport proteins and helps the distribution of iron throughout the tissues.
- Destroys harmful free radicals.
The term "acute phase ceruloplasmin protein" is also used in medicine. What it is? As already mentioned, 2-alpha-glycoprotein is involved in the body's immune response to the penetration of foreign agents. An increased amount of ceruloplasmin is formed during the acute stage of infectious pathologies. This is necessary to combat pathogens. Hence the name - acute phase protein.
Indications for the study
In what cases can a doctor prescribe a blood test for ceruloplasmin? This study is necessary if the patient has the following pathological manifestations:
- violation of coordination of movements of unknown origin;
- muscle weakness;
- trembling limbs;
- sweeping involuntary movements;
- difficulty swallowing;
- slurred speech;
- slow growth in a child;
- the appearance of greenish-brown rings around the cornea of the eye.
Such a clinical picture may indicate Wilson-Konovalov disease. In this genetic disease, in patients in the liver there is no enzyme that ensures the binding of copper to ceruloplasmin. This leads to serious neurological disorders.
A blood test for ceruloplasmin is prescribed for children with suspected Menckes disease ( curly hair syndrome ). This hereditary pathology is caused by a violation of the transport and absorption of copper. The indication for the study is the following symptoms:
- cramps
- decreased muscle tone;
- lag in height and weight;
- twisted faded hair.
A study on ceruloplasmin is also carried out with signs of hypochromic anemia. If the results of a general blood test show reduced indicators of red blood cells and hemoglobin, then the doctor may prescribe an additional test for 2-alpha-glycoprotein. Often anemia is associated with a decrease in the production of ceruloplasmin.
How is the analysis
The test for ceruloplasmin is carried out in the morning on an empty stomach. The last meal is allowed no later than 10 - 12 hours before analysis. Before the test, you can only drink clean water.
You also need to refrain from smoking and physical activity 1 - 2 hours before the analysis. Violation of these rules can lead to false test results.
A few days before taking the sample, it is necessary to exclude the use of hormonal, anticonvulsant drugs, as well as cytostatics. If it is impossible to interrupt the course of treatment, then you need to inform your doctor about the drugs you are taking.
Venous blood is taken for the study. The biomaterial is sent to the laboratory. It is investigated in two ways:
- Method Ravina. In this case, reagents for the oxidation of ceruloplasmin are used. What it is? There are special substances (for example, p-phenlendiamine) that react chemically with a protein and change its color. The intensity of the color judges the activity of ceruloplasmin.
- Immunoturbidimetric method. This research method is based on the reaction of a protein with antibodies. When they interact, antigen-antibody complexes are formed. The content of ceruloplasmin is judged by the degree of turbidity of the solution.
With any method of researching biomaterial, test results are usually ready after 24 hours.
Norm
What are the acceptable levels of ceruloplasmin? The standards for the content of this protein depend on the age of the patient, as well as on the method of blood testing.
If the test was carried out according to the Ravin method, then for an adult, indicators of the concentration of ceruloplasmin from 180 to 450 mg / l are allowed. For children aged 1 year to 18 years, the norm is from 200 to 570 mg / l.
If an immunoturbidimetric method was used in blood tests, then the values for adults are considered to be from 20 to 60 mg / dl, and for children (1 to 18 years old) from 24 to 145 mg / dl.
It is important to remember that during pregnancy, ceruloplasmin levels are always elevated. In the third trimester, protein indicators can be 2 to 3 times higher than normal. Such data do not indicate pathology.
In infants, protein indicators are usually reduced. Therefore, such a test cannot be used to diagnose disorders of copper metabolism under the age of 1 year.
Above norm
What can elevated ceruloplasmin indicate? This usually indicates the introduction of a foreign agent into the body or the presence of serious tissue damage. High protein concentration is noted in the following pathologies:
- infectious diseases;
- injuries
- malignant tumors;
- chronic inflammatory processes;
- leukemia
- autoimmune diseases in the acute stage;
- pathologies of the liver;
- myocardial infarction.
The highest concentration of protein is usually observed at 4-20 days of illness. This is a sign of the body's immune response to infection, inflammation, trauma or tissue necrosis.
Low protein
If the patient has reduced ceruloplasmin, then this most often indicates serious impairment of copper metabolism. The most common cause of this deviation is Wilson-Konovalov disease. With this pathology, the protein does not bind copper, which leads to the deposition of metal ions in the tissues.
A rarer reason for the decrease in ceruloplasmin is Menkes disease, in which copper does not penetrate the blood from the intestines. This leads to inhibition of protein synthesis.
There are other reasons for lowering the concentration of ceruloplasmin:
- Secondary copper deficiency. This phenomenon is often observed with strict diets. Protein is produced very poorly if there are no copper-rich foods in the patient's diet.
- Nephrotic syndrome. With this disease, copper is excreted in urine in increased quantities and aceruloplasmin cannot turn into ceruloplasmin.
- Bowel disease and malabsorption syndrome. With such pathologies, protein is poorly absorbed into the blood from the digestive tract.
- Pathology of the liver. In some diseases, the synthesis of ceruloplasmin in hepatocytes is impaired.
- Hypochromic anemia. This kind of anemia is caused by copper deficiency. As a result, aceruloplasmin does not bind to metal ions and cannot turn into a complete protein.
In very rare cases, protein is sharply reduced with aceruloplasmanemia. What it is? Ceruloplasmin with this hereditary pathology is formed in very small quantities. Violation of its synthesis is associated with a gene mutation. The disease is accompanied by an accumulation of iron in the tissues of the brain and severe disorders of the central nervous system.
Treatment
What to do with deviations in the test results for ceruloplasmin? If the protein is elevated, this usually indicates infectious, inflammatory and autoimmune pathologies, as well as tissue damage. In this case, it is necessary to treat the underlying pathology. After a course of therapy, the level of ceruloplasmin in the blood returns to normal.
If ceruloplasmin is lowered due to Wilson-Konovalov disease, then the patient is shown a special diet with a restriction in the diet of products containing copper. The patient is prescribed Unityol and Kuprenil preparations. These drugs bind and remove copper ions from tissues.
Additionally, therapy is carried out using B vitamins. These drugs stop neurological manifestations.
In case of impaired liver function, an organ transplant is performed. Such an operation is done only in severe cases, as this is a rather risky procedure. However, an organ transplant helps to completely get rid of congenital hepatocyte dysfunction.