Along with other pathologies, purine metabolism disorders are also considered a serious disease, the treatment of which should be given attention. First of all, these are malfunctions in the metabolism of useful substances that provoke the occurrence of other diseases, such as gout, nephropathy or kidney failure.
As a rule, there is a violation of purine metabolism in children, but adults are also susceptible to this pathology. Only usually patients in adulthood face a number of comorbidities and complications.
General information
Violation of purine metabolism according to ICD-10 has the code E79. Usually this disease is chronic and is directly related to the deposition of acid s alts in the tissues of the kidneys and joints. Symptoms of disorders of purine metabolism are quite specific and manifest as recurring exacerbations of arthritis, accompanied by pain.
An undiagnosed and untreated problem can lead to more seriousconsequences: for example, the onset of urolithiasis and kidney failure. All therapeutic measures in such a situation are usually aimed at stopping unpleasant symptoms, reducing the severity of the clinical picture, preventing the development of complications and normalizing the metabolism of useful substances.
Causes of pathology
A prerequisite for the development of the disease is the excessive formation of purine bases or their too slow excretion with uric acid.
The primary form of pathology is explained by hereditary predisposition. But the secondary type of the disease may be associated with the regular intake of diuretics, anti-inflammatory drugs and other medications.
Purine metabolism disorders provoke:
- spirits;
- severe hypothermia;
- some pharmaceuticals;
- products containing relevant education;
- pathologies of an infectious nature;
- psycho-emotional and physical overstrain.
Symptoms
Signs of disorders of purine metabolism resemble typical manifestations of metabolic failures. Pathology is characterized by an increased level of creatinine kinase, which appears in almost all patients. Other non-specific signs of the disease can be detected using an electromyographic examination.
In patients with disorders of purine metabolism, there is an extremely low production of ammonia, due to which it is significantlyefficiency decreases and appetite is almost completely absent. Patients feel general malaise, lethargy, depression. In some cases, pronounced weakness develops.
Children suffering from disorders of purine metabolism for a long time often remain mentally underdeveloped and have an increased tendency to autism. In more rare cases, small and adult patients experience seizures resembling epileptic seizures, as well as convulsions. Among other things, the psychomotor development of a sick person slows down or stops altogether.
Features
The most striking disorders of purine metabolism include excessive formation and further accumulation of uric acid, which is observed in gout and Lesch-Nyhan syndrome. The latter lies in the hereditary lack of a certain enzyme, which leads to the non-use of re-released purines. As a result, they are oxidized, converting into uric acid.
Diagnosis
Identification of the disease is extremely difficult and does not always give an accurate result, since this pathology has many features similar to other disorders in homeostasis. However, with a long-term observation of the patient's condition and his analyzes in general terms, it is quite possible to detect failures in purine metabolism and the reasons for its occurrence.
Diagnosis can be made based primarily on the complete absence of renal function.enzymes, active substances of the liver and skeletal muscles. With the help of laboratory tests, partial deficiency can be detected in lymphocytes and fibroblasts.
Special treatment that would be aimed at eliminating enzyme dysfunction has not yet been developed, so you can only rely on complex therapy.
Treatment
Purine metabolism disorders require complex treatment, which is based primarily on a strict diet, including foods low in uric acid, and drug therapy.
Pharmacological methods include several steps:
- balance and normalization of metabolic processes with the help of fortification;
- establishment of metabolic acidosis and control of the acidic environment in the urine;
- establishment and continued maintenance of a normal level of hyperlipidemia;
- control and normalization of the patient's blood pressure during the day;
- treatment of probable complications of pathology.
Treatment of consequences
Gout is a disorder of purine metabolism that has not been diagnosed and treated in time. These diseases are very closely related. That is why the signs and treatment of gout are not much different from those with metabolic failures. In general, the treatment of this pathology comes down to the correction of purine metabolism. For this, the patient is recommended:
- limit physical activity during flare-ups;
- following a certain diet;
- drinking regime, including2 liters of water daily;
- use of local compresses using "Dimexide";
- use of prescribed doses of NSAIDs.
Treatment of disorders of purine metabolism can be carried out both in stationary conditions and at home. However, the latter option is acceptable only after consultation with a specialist and confirmation of the diagnosis.
Drug therapy
Basic treatment is based on the long-term use of drugs that normalize the amount of uric acid in the blood. Medicines can only be used during remission. Depending on the effect, there are several varieties of recommended drugs:
- drugs that reduce the production of uric acid, such as Allopurinol;
- drugs containing etebenecid - increase the rate of excretion of uric acid from the body;
- mixed drugs.
Prolonged drug therapy is appropriate for frequent attacks, a pronounced clinical picture of the disease, the formation of tophi and injury to the kidneys.
During the periods of remission, patients are also shown a variety of physiotherapy procedures: massage, paraffin baths, ultrasound.
Diet in violation of purine metabolism
In almost all pathology treatment regimens, doctors mentionadherence to a certain diet. A special diet helps the patient to effectively eliminate the negative effects of metabolic disorders. Usually, the first complications that a balanced diet effectively copes with are a disorder in fat metabolism. Against the background of this pathology, the patient is rapidly gaining weight, and sometimes faces atherosclerosis, coronary heart disease, and a steady increase in blood pressure.
In all the situations described, experts prescribe diets to patients in which the amount of purine-rich foods is limited or completely absent. These include: mushrooms, meat, legumes, fish. In addition, patients are shown fasting days with a vegetable, dairy or fruit menu.
It is worth saying that the diet for violations of purine metabolism should be used for quite a long time. The patient's diet provides for fractional meals 4-5 times a day.
The menu excludes products containing oxalic acid and purines, has certain restrictions regarding s alt, proteins, fats and carbohydrates. The energy value of the daily diet should range from 2700-2800 calories. The daily menu provides for the consumption of 80 g of proteins, 90 g of fat, 400 g of carbohydrates.
Recommended products:
- lean meats and fish;
- dairy components;
- bread from the first grade of flour;
- all kinds of cereals;
- vegetables and fruits in any form.
Should be excluded:
- fatty fish and meat;
- raspberries;
- strong tea and coffee;
- chocolate;
- cocoa powder;
- legumes;
- cranberries;
- sorrel.
A variety of cooking oils are also prohibited.
With a properly selected diet and other components of complex treatment, the patient feels significant relief in just a few weeks.
