The most common disorder of purine metabolism is increased production of uric acid with the development of hyperuricemia. A feature is that the solubility of uric acid salts (urates) in blood plasma is low and when the solubility threshold in plasma (about 0.7 mmol / l) is exceeded, they crystallize in peripheral zones with low temperature.
Depending on duration and severity hyperuricemia manifests itself:
- The appearance of tophi (gr. tophus- porous stone, tuff) - the deposition of urate crystals in the skin and subcutaneous layers, in the small joints of the legs and arms, in tendons, cartilage, bones and muscles.
- Nephropathy as a result of crystallization of uric acid with damage to the renal tubules and urolithiasis disease.
- Gout is a disease of small joints.
To diagnose disorders, the determination of the concentration of uric acid in the blood and urine is used.
Purine metabolism disorders
Gout
When hyperuricemia becomes chronic, they speak of the development of gout (Gr. poclos- leg, agra- capture, literally - "foot in a trap").
Uric acid is found in the blood in the form of its salts. sodium urates. Due to the low solubility, urates are able to settle in areas with low temperatures, for example, in the small joints of the feet and toes. The urates accumulating in the intercellular substance are phagocytosed for some time, but phagocytes are not able to destroy the purine ring. As a result, this leads to the death of the phagocytes themselves, to the release of lysosomal enzymes, activation of free radical oxidation and the development of an acute inflammatory reaction - develops gouty arthritis. In 50-75% of cases, the first symptom of the disease is excruciating night pain in the big toes.
For a long time, gout was considered a "gourmet disease", but then the attention of researchers shifted to a hereditary change in the activity of purine metabolism enzymes:
- increase in activity FRDF-synthetases- leads to excessive synthesis of purines,
- decrease in activity - because of this, FRDF is not used to recycle purine bases, but participates in the first reaction of their synthesis. As a result, the amount of purines that are destroyed increases and at the same time their formation increases.
Both enzymatic disorders are recessive and linked to the X chromosome. Gout affects 0.3-1.7% of the adult population of the world, the ratio of affected men and women is 20: 1.
Fundamentals of treatment
Diet - reducing the intake of uric acid precursors with food and reducing its formation in the body. For this, foods containing a lot of purine bases are excluded from the diet - beer, coffee, tea, chocolate, meat products, liver, red wine. Preference is given vegetarian diet with quantity clean at least 2 liters of water per day.
TO medicines treatment of gout include allopurinol, which is similar in structure to hypoxanthine. Xanthine oxidase oxidizes allopurinol to alloxanthin, and the latter remains firmly bound to the active site of the enzyme and inhibits it. The enzyme performs, figuratively speaking, suicidal catalysis. As a consequence, xanthine is not converted to uric acid, and because hypoxanthine and xanthine are more water soluble, they are more easily excreted in the urine.
Urolithiasis disease
Urolithiasis is the formation salt crystals(stones) of different nature in the urinary tract. directly education uric acid stones accounts for about 15% of all cases of this disease. Uric acid stones in the urinary tract are deposited in about half sick gout.
Most often, such stones are present in the distal tubules and collecting ducts. Cause of deposition uric acid crystals is hyperuricemia and increased excretion of sodium urates in the urine. The main provoking factor of crystallization is increased acidity of urine. When the pH of urine drops below 5.75, urates (enol form) become less soluble keto form and crystallize in the renal tubules.
Acidification of urine (normally 5.5-6.5) occurs for various reasons. This may be an excess supply of meat products containing a large amount of nucleic acids. acids, amino acids and inorganic acids, which makes such food "acidic" and lowers the pH of the urine. The acidity of the urine also increases with acidosis different origin (Acid-base state).
Fundamentals of treatment
Just like with gout, treatment is reduced to purine-free diet and the use of allopurinol. In addition, it is recommended plant based diet, leading to alkalization of urine, which increases the proportion of more water-soluble in primary urine salts of uric acid- urates. At the same time, already existing uric acid crystals (as well as oxalates) are able to dissolve when the urine is alkalized.
Drug treatment must necessarily be accompanied by purine-free diet from lots of clean water, otherwise the appearance of xanthine crystals in tissues and xanthine stones in the kidneys.
Lesch-Nyhan syndrome
Disease L e sha-n And khana (frequency 1:300000) is a complete congenital lack of activity hypoxanthine-guanine-phosphoribosyl-transferases, an enzyme responsible for the recycling of purine bases. The trait is recessive and linked to the X chromosome. It was first described in 1964 in the United States by medical student Michael Lesh and pediatrician William Nyhan.
Children are born clinically normal, only by 4-6 months developmental abnormalities are detected, namely, a lag in physical development (holding his head with difficulty), increased excitability, vomiting, periodic increase temperature. The release of uric acid can be detected even earlier by the orange color of the diapers. By the end of the first year of life, the symptoms increase, a violation of coordination of movements, choreoathetosis, cortical paralysis, spasm of the muscles of the legs develop. The most characteristic sign of the disease manifests itself in the 2-3rd year of life - auto-aggression or self-mutilation - an irresistible desire of children to bite their lips, tongue, knuckles of fingers and toes.
Acetonemic syndrome in children (AS), or cyclic acetonemic vomiting syndrome (non-diabetic ketosis, not diabetic ketoacidosis, acetonemic vomiting), - a set of symptoms that are caused by an increase in blood levels ketone bodies: acetone, acetoacetic acid and β-hydroxybutyric acid - degradation products of fatty acids and ketogenic amines.
There are primary (idiopathic) and secondary (against the background of somatic, infectious, endocrine diseases, tumors and lesions of the central nervous system) acetonemic syndrome. Of greatest interest is the primary AS, which will be discussed below.
Prevalence
AS is a disease predominantly of childhood, manifested by stereotypical repeated episodes of vomiting that alternate with periods of complete well-being. It often occurs in children during the first years of life. The prevalence of AS is poorly understood. AS affects 2.3% of Austrians, 1.9% of Scottish residents. In India, AS is responsible for 0.51% of all hospital admissions in children's department. According to Russian literature, primary AS occurs in 4-6% of children aged 1 to 13 years. More often AS is registered in girls. The median age of onset of AS is 5 years. 50% of patients with this pathology require hospitalization and intravenous fluids. The average annual cost of examination and treatment of one patient with this pathology in the United States is 17 thousand dollars.
Etiology and pathogenesis
The main factor in the background of which AS occurs is an anomaly of the constitution - neuro-arthritic diathesis (NAD). However, any stressful, toxic, alimentary, endocrine effects on energy metabolism, even in children without NAD, can cause the development of acetonemic vomiting.
Normally, the catabolic pathways of carbohydrate, protein, and fat metabolism intersect in the Krebs cycle, the universal pathway for energy supply to the body.
The trigger for ketosis development is stress. relative advantage contrainsular hormones and nutritional disorders in the form of starvation or excessive consumption of fatty and protein foods (ketogenic amino acids) with a lack of carbohydrates. An absolute or relative lack of carbohydrates causes the stimulation of lipolysis to meet the needs of the body.
Ketosis causes a number of adverse effects on the child's body. First, with a significant increase in the level of ketone bodies, which are anion donors, metabolic acidosis occurs with an increased anion gap - ketoacidosis.
Its compensation is carried out due to hyperventilation, which leads to hypocapnia, causing vasoconstriction, including cerebral vessels. Secondly, an excess of ketone bodies has a narcotic effect on the central nervous system, up to the development of coma. Thirdly, acetone is a fat solvent and damages the lipid bilayer of cell membranes.
In addition, the utilization of ketone bodies requires an additional amount of oxygen, which can cause a mismatch between the delivery and consumption of oxygen, that is, it contributes to the development and maintenance of a pathological condition.
Excess ketone bodies irritate the mucous membrane gastrointestinal tract, which is clinically manifested by vomiting and abdominal pain syndrome. The listed adverse effects of ketosis in combination with other disorders of water-electrolyte and acid-base balance (hypo-, iso- and hypertonic dehydration, metabolic acidosis due to loss of bicarbonate and / or accumulation of lactate) contribute to a more severe course of the disease, increase the length of stay in the intensive care unit therapy.
NAD is a polygenically inherited metabolic anomaly, which is based on a violation purine metabolism with excessive production of uric acid and its precursors, instability of other types of metabolism (primarily carbohydrate and lipid) with a tendency to ketosis and mediator functions of the nervous system, which determine the characteristics of its reaction.
The genetic factors that cause hyperuricemia include a number of enzyme defects: hypoxinthideficiency; deficiency of glucose-6-phosphatase; an increase in the catalytic activity of the enzyme phosphoribosyl pyrophosphate synthetase.
The hereditary factor of purine metabolism disorders is confirmed by the results of family genetic studies of children with NAD: the frequency of detection of neuropsychiatric diseases in the pedigree of such children is up to 18%, gout is recorded in 22% of cases. In relatives of the 1st degree of kinship - urolithiasis, uric acid diathesis, metabolic arthritis occur 20 times more often than in the control group. Diseases of the circulatory system (ischemic heart disease, hypertonic disease), diabetes.
Free purines and their compounds are of particular importance in the life of the organism; the synthesis of purine bases is the central link in the biosynthesis of nucleotides, which are involved in almost all intracellular biochemical processes:
- they are activated precursors of DNA and RNA;
- nucleotide derivatives - activated intermediate products of many synthetic reactions;
- adenine nucleotide of adenosine triphosphoric acid - a universal energy "currency" in biological systems;
- adenine nucleotides - components of the three main coenzymes: NAD, FAD and COA;
- purine nucleotides play a general regulatory role in the biological activity of cells, turning into cyclic nucleotides - cyclic adenosine monophosphate and cyclic guanosine monophosphate.
In humans, the main sources of purine synthesis are phosphoribosyl monophosphate and glutamine, from which inosinic acid is formed - the main precursor of purine nucleotides, containing a fully prepared purine ring system.
From year to year, interest in the study of purine metabolism and its end product, uric acid, is growing, which is associated with a steady increase in the frequency of both asymptomatic and clinically manifest hyperuricemia, a biological anomaly that is unique to humans.
There are three main pathways for the formation of uric acid in the body:
- from purines, which are released during tissue breakdown;
- from purines contained in food;
- from synthetically created purines.
Hyperuricemia can be detected in almost 38% of people, and the level of uric acid in the blood depends on age, gender, nationality, geographical area, level of urbanization, type of food.
Hyperuricemia can be primary or secondary. There are two ways of developing primary hyperuricemia - metabolic and excretory. The first is associated with a significant intake of purines in the body and their enhanced formation. The increased synthesis of uric acid, characteristic of NAD, may be due to various enzyme defects, the main of which are:
lack of glutaminase, which converts glutamine into glutamic acid and ammonia;
- deficiency ofransferase, which provides the synthesis of purine bases (hypoxanthine and guanine) and nucleotides (inosine monophosphate and guanosine monophosphate);
- hypoproduction of uricase, which converts uric acid into more diluted allantoin;
- an excess of phosphoribosyl pyrophosphate synthetase, which catalyzes the synthesis of phosphoribosyl pyrophosphate from ATP and ribose-5-phosphate;
hyperactivity of xanthine oxidase, which oxidizes hypoxanthine to xanthine and uric acid.
Clinic, diagnostics
Currently, NAD is regarded as an enzyme-deficient condition characterized by:
- increased excitability and rapid exhaustion of the nervous system at all levels of reception with the presence of a dominant focus of congestive excitation in the hypothalamic-diencephalic region;
- deficiency of liver enzymes (glucose-6-phosphatase, hypoxanthine-guanine-phosphoribosyl pyrophosphate synthetase);
- low acetylating ability of acetylcoenzyme A due to a deficiency of oxalic acid, which is necessary for the involvement of acetylcoenzyme A in the Krebs cycle;
- violation of the mechanism of reuse of uric and lactic acids;
- violation of fat and carbohydrate metabolism;
- violation of the endocrine regulation of metabolism.
Children with NAD immediately after birth are characterized by increased excitability, emotional lability, sleep disturbance, fearfulness. Aerophagia and pylorospasm are possible. By the age of one, they usually noticeably lag behind their peers in mass. Neuropsychic development, on the contrary, is ahead of age norms. Children quickly master speech, show curiosity, interest in the environment, remember well and retell what they hear, but often show stubbornness and negativism in their behavior. Starting from the age of 2-3 years, they have equivalents of gouty attacks and crises in the form of transient nocturnal pain in the joints, spastic abdominal pain, biliary tract and stomach dyskinesia, odor intolerance, other types of idiosyncrasy, migraine, acetonemic crises. Sometimes there is persistent subfebrile condition. Tics, choreic and tic-like hyperkinesis, affective convulsions, logoneurosis, enuresis are possible. Often there are respiratory and skin allergic manifestations in the form of atopic bronchial asthma, atopic dermatitis, urticaria, Quincke's edema, and under the age of 1 year allergic lesions skins are extremely rare and appear, as a rule, after 2-3 years. In the pathogenesis of the skin syndrome, not only allergic, but also para-allergic (non-immune) reactions are important, due to the release of biologically active substances, a decrease in the synthesis of cyclic nucleotides and a powerful inhibitory effect of uric acid on adenyl cyclase. One of the typical manifestations of NAD is saluria with predominant uraturia. Salt excretion is periodically observed simultaneously with dysuria not associated with infection. However, it is possible to develop pyelonephritis, which often joins with nephrolithiasis. In children of prepubertal and pubertal age, an asthenoneurotic or psychasthenic type of accentuation is often detected. Girls show hysterical character traits. Neurasthenia predominates among neuroses. Vegetovascular dysfunction often proceeds according to the hyperkinetic type.
The most pronounced manifestation of metabolic disorders in children with NAD, requiring intensive medical care, is the acetone crisis. Its development can be facilitated by many factors that, in conditions of increased excitability of the nervous system, have a stressful effect: fear, pain, conflict, hyperinsolation, physical or psycho-emotional stress, a change in the microsocial environment, nutritional errors (high content of proteins and fats) and even positive emotions "in excess ". Increased excitability of the vegetative centers of the hypothalamus, which occurs with NAD, under the influence of stress factors causes increased lipolysis and ketogenesis, resulting in the formation of a large number of ketone bodies. This causes irritation of the vomiting center of the brain stem, which causes vomiting.
Acetonemic crises occur suddenly or after precursors (aura), which include anorexia, lethargy, agitation, migraine headache, nausea, abdominal pain mainly in the umbilical region, acholic stools, acetone breath odor.
The clinical picture of the acetone crisis:
- repeated or indomitable vomiting within 1-5 days (an attempt to drink or feed a child provokes vomiting);
- dehydration and intoxication (pallor of the skin with a characteristic blush, physical inactivity, muscle hypotension);
- anxiety and agitation at the beginning of the crisis are replaced by lethargy, weakness, drowsiness, in rare cases, symptoms of meningism and convulsions are possible;
- hemodynamic disorders (hypovolemia, weakening of heart tones, tachycardia, arrhythmia);
- spastic abdominal syndrome(cramping or persistent abdominal pain, nausea, stool retention);
- an increase in the liver by 1-2 cm, which persists for 5-7 days after the relief of the crisis;
- an increase in body temperature to 37.5-38.5 ° C;
- the presence in the urine, vomit, exhaled air of acetone, in the blood - an increased concentration of ketone bodies;
- hypochloremia, metabolic acidosis, hypoglycemia, hypercholesterolemia, beta-lipoproteinemia;
- in peripheral blood moderate leukocytosis, neutrophilia, moderate increase in ESR.
Diagnostics
Diagnosis of AS is based on the study of anamnesis, analysis of complaints, clinical symptoms and results of certain instrumental and laboratory methods examinations. It is necessary to establish the nature of the AS: primary or secondary. The diagnosis should contain a breakdown of the main syndromes that predetermine the severity of the child's condition (dehydration, acidosis, hypovolemia, etc.).
Diagnostic criteria for the syndrome of cyclic acetonemic vomiting (primary AS) are defined by international consensus (1994).
Required Criteria:
- repeated, severe, isolated episodes of vomiting;
— different duration intervals of normal health between episodes;
- the duration of episodes of vomiting from several hours to a day;
- negative laboratory, radiological and endoscopic examination results, which could explain the etiology of vomiting, as a manifestation of the pathology of the digestive tract.
Additional criteria:
- vomiting is characterized by stereotypy, and each episode is similar to the previous one in time, intensity and duration;
- attacks of vomiting can end spontaneously and without treatment;
- associated symptoms include nausea, abdominal pain, headache, weakness, photophobia, lethargy;
- associated signs include fever, pallor, diarrhea, dehydration, excessive salivation and social maladaptation;
Vomit often contains bile, mucus and blood. Hematemesis is often the result of retrograde prolapse of the cardial part of the stomach through the gastroesophageal sphincter (i.e., propulsive gastropathy), as in the classic Mallory-Weiss syndrome.
Differential diagnosis of primary AS
It is necessary to determine whether there is a primary AS or a secondary one. Exceptions required:
- diabetic ketoacidosis (determination of the level of glycemia);
- acute surgical pathology of the gastrointestinal tract;
– neurosurgical pathology (MRI, CT of the brain);
— infectious pathology(clinical picture, hyperleukocytosis, elevated ESR);
- poisoning.
Treatment
The treatment of acetonemic syndrome can be divided into two stages: the relief of the acetonemic crisis and the implementation of measures in the interictal period aimed at preventing relapses.
Relief of acetone crisis
The objectives and directions of treatment of AS in children can be formulated as follows:
1) the diet is assigned to all patients. It should contain easily digestible carbohydrates, be enriched with liquid, limit the intake of fats;
2) the appointment of prokinetics (dommperidone, metoclopramide), enzymes and cofactors of carbohydrate metabolism (thiamine, cocarboxylase, pyridoxine) contributes to an earlier restoration of food tolerance and normalization of carbohydrate and fat metabolism;
3) infusion therapy should:
- quickly eliminate hypovolemia and deficiency of extracellular fluid in order to improve perfusion and microcirculation;
4) in cases of moderate ketosis (urine acetone up to "++"), which is not accompanied by significant dehydration, water-electrolyte disorders and uncontrolled vomiting, diet therapy and oral rehydration are indicated in combination with the use of prokinetics in age doses and etiotropic therapy of the underlying disease.
At initial symptoms acetone crisis or its precursors, it is advisable to clean and rinse the intestines with 1-2% sodium bicarbonate solution and give the child every 10-15 minutes to drink sweet tea with lemon, non-carbonated alkaline mineral water ("Luzhanskaya", "Borjomi", etc.), 1-2 % sodium bicarbonate solution, combined solutions for oral rehydration. Food should contain easily digestible carbohydrates and a minimum amount of fat (liquid semolina or oatmeal, mashed potatoes, milk, baked apples). Drug therapy includes antispasmodics (drotaverine for children from 1 to 6 years old - 10-20 mg 2-3 times a day, children school age- 20-40 mg 2-3 times a day; papaverine bromide (after 5 years of age - 50-100 mg / day); enterosorbents (in age dosage). Due to stool retention in patients, the use of diosmectin is not advisable.
In the case of the development of an acetone crisis, accompanied by repeated or indomitable vomiting, treatment is aimed at correcting acidosis, ketosis, dehydration and dyselectrolytemia. It is advisable to re-cleanse the intestines, and then rinse it with 1-2% sodium bicarbonate solution 1-2 times a day.
Indications for the appointment of infusion therapy:
1. Persistent and repeated vomiting that does not stop after the appointment of prokinetics.
2. Presence of moderate (up to 10% of body weight) and/or severe (up to 15% of body weight) dehydration.
3. The presence of decompensated metabolic acidosis with an increased anion gap.
4. The presence of hemodynamic and microcirculatory disorders.
5. Signs of disorders of consciousness (sopor, ketoacidotic coma).
The presence of anatomical and functional difficulties for oral rehydration (malformations of the facial skeleton and oral cavity), neurological disorders (bulbar and pseudobulbar disorders).
Before starting infusion therapy, it is necessary to ensure reliable venous access (mainly peripheral), using Venflon-type catheters or analogues, to determine hemodynamic parameters, acid-base and water-electrolyte states.
The main tasks for starting infusion therapy are:
- in the correction of hypoglycemia, if it exists;
- elimination of hypovolemia;
- restoration of satisfactory microcirculation.
As infusion solutions, a 5-10% glucose solution with insulin and crystalloid sodium-containing solutions (0.9% sodium chloride solution, Ringer's solution) are used in a ratio of 1: 1 or 2: 1, taking into account the indicators of water-electrolyte metabolism. The total volume of fluid administered is 50-60 ml/kg/day. Reopoliglyukin (10-20 mg/kg) is used to combat hypovolemia and peripheral hypoperfusion. In complex infusion therapy, cocarboxylase is used (50-100 mg / day), 5% solution ascorbic acid(2-3 ml / day). With hypokalemia - correction of the level of potassium (potassium chloride 5% solution 1-3 ml / kg in 100 ml of 5% glucose solution IV drip).
Given the available data regarding the limited capacity of the most common crystalloid solutions ( saline solutions and glucose solutions) to quickly and effectively eliminate ketosis and its pathophysiological consequences, there are serious theoretical and practical prerequisites for the use of sugar alcohol solutions as alternative means of treating ketotic conditions. The main difference between sugar alcohols (sorbitol, xylitol) is the peculiarities of their metabolism, namely its independence from insulin, and a significantly greater antiketogenic effect.
If the child drinks willingly enough liquid, parenteral administration infusion solutions can be completely or partially replaced by oral rehydration, which is carried out with combined preparations. With persistent uncontrollable vomiting, the appointment of metoclopramide parenterally is indicated (for children under 6 years of age). single dose 0.1 mg / kg, children from 6 to 14 years old - 0.5-1.0 ml). Considering possible unwanted side effects from the nervous system (dizziness, extrapyramidal disorders, convulsions), the introduction of metoclopramide more than 1-2 times is not recommended.
With severe abdominal spastic syndrome, antispasmodics are administered parenterally (papaverine, platifillin, drotaverine in an age dosage). If the child is excited, restless, hyperesthesia is expressed, tranquilizers are used - diazepam preparations in middle-aged dosages. After stopping vomiting, it is necessary to give the child a sufficient amount of liquid: dried fruit compote, sweet fruit juices, tea with lemon, low-mineralized alkaline mineral waters. A diet with a sharp restriction of fats, proteins and other ketogenic foods is shown.
Therapeutic measures in the interictal period
Activities in the interictal period are aimed at preventing the recurrence of acetonemic crises and include a number of areas, the main of which is therapeutic nutrition.
Diet therapy for NAD is aimed at:
- to limit the use of foods rich in purines;
- increased excretion of uric acid by the kidneys due to increased diuresis;
— decrease in excitability of the autonomic nervous system;
- Promoting alkalization of urine;
- elimination of food allergens and allergenic substances.
- proteins (purines) contribute to the endogenous formation of uric acid;
- fats negatively affect the excretion of urates from the body;
- Carbohydrates have a sensitizing effect.
However, given the high demand child's body in plastic material, in a diet with NAD, it is dangerous to reduce the proportion of animal protein, although it is necessary to limit the intake as much as possible:
- meat of young animals, poultry and offal (kidneys, heart, liver, lungs, brain, black and liver sausage), as they contain a large amount of purines. Preference is given to the meat of adult animals and birds (beef, lean pork, rabbit, chicken, turkey) in boiled form;
- legumes (peas, soybeans, beans, beans);
- some types of fish (sprats, sardines, sprat, cod, pike perch, pike);
- mushrooms (porcini mushroom);
- salt, because it retains fluid in the tissues and prevents the excretion of uric acid compounds through the kidneys.
Jelly, sauces, meat and fish broths should be excluded from the diet, because. 50% of purines, when boiled, go into the broth. You should not abuse products that have a stimulating effect on the nervous system (coffee, cocoa, strong tea, spicy snacks, spices). Even small amounts of alcohol can impair uric acid excretion, and low levels of the enzyme alcohol dehydrogenase in children with NAD increase the risk of alcohol dependence.
- milk and dairy products;
vegetables (potatoes, White cabbage, cucumbers, carrots, tomatoes);
- fruits, berries (apples, except Antonovka, watermelon, grapes, apricots, peaches, pears, plums, cherries, oranges);
— forest and walnuts;
- flour products;
- cereals (except oatmeal and polished rice);
- sugar and honey;
- products enriched with niacin, retinol, riboflavin and vitamin C;
— a large number liquids (up to 1.5-2.5 liters depending on age) in the form of citrus and citrate mixtures, carrot drinks, mint and linden teas, vegetable, berry and fruit juices, decoctions of wild rose and berries, alkaline mineral waters. Low-mineralized mineral waters act diuretically, stimulate glomerular filtration processes, and normalize water-salt metabolism. Mineral waters are prescribed at the rate of 3-5 ml / kg for admission three times a day for a month, 3-4 courses per year. Alkalinization of urine increases the solubility of uric acid in the urine and prevents the formation of urate stones. For the same purpose, vegetables and fruits are consumed. Their positive effect lies in the fact that they contain a large amount of potassium ions, which have a diuretic effect and increase the excretion of urates in the urine.
Treatment of AS in the interictal period is carried out in courses, at least 2 times a year, usually in the off-season. Hepatoprotectors are prescribed. With frequent and severe acetonemic crises, ursodeoxycholic acid derivatives are prescribed for the purpose of prevention. In addition to hepatoprotectors, the function of hepatocytes is optimized by lipotropic drugs, which are recommended to be taken 1-2 times a year. With a decrease in the exocrine function of the pancreas, treatment with pancreatic enzyme preparations is carried out for 1-1.5 months until the coprogram parameters are completely normalized. For the treatment of saluria, a decoction of juniper fruits, horsetail extract, decoction and infusion of lingonberry leaves are used. Showing sedatives from medicinal plants: soothing tea, valerian root decoction, hawthorn fruit and flower decoction, passionflower extract, and Pavlova's potion. The duration of the use of sedatives is determined by the presence of a syndrome of increased neuro-reflex excitability.
Children with NAD must follow certain rules on the regimen at all times. First of all, a sufficient stay on fresh air, regular, strictly dosed physical exercise(do not overwork), mandatory water procedures(swimming, cold and hot shower, dousing), prolonged sleep (at least 8 hours). Hyperinsolation should be avoided. It is advisable to reduce the time of watching TV and working with a computer. Due to the restriction of many products in the diet of children, it is recommended to conduct vitamin therapy courses in the winter-spring period. Spa treatment shown in the conditions of a drinking balneological resort.
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Along with other pathologies, a violation of purine metabolism is also considered serious illness, whose treatment 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 are faced with a number of concomitant diseases and complications.
General information
Violation of purine metabolism according to ICD-10 has the code E79. Usually this disease is chronic in nature and is directly related to the deposition of acid salts in the tissues of the kidneys and joints. Symptoms of disorders of purine metabolism are quite specific and appear as recurring exacerbations of arthritis, accompanied by pain.
An undiagnosed and untreated problem in time can lead to more serious consequences: for example, the onset of urolithiasis and kidney failure. Everything therapeutic measures in such a situation, they 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 can be associated with the regular intake of diuretics, anti-inflammatory drugs and other medicines.
Purine metabolism disorders provoke:
- alcohol;
- severe hypothermia;
- some pharmaceuticals;
- products containing relevant education;
- pathologies of an infectious nature;
- psycho-emotional and physical stress.
Symptoms
Signs of disorders of purine metabolism resemble typical manifestations of metabolic failures. Pathology is characteristic elevated level creatinine kinase, which appears in almost all patients. Other nonspecific signs of the disease can be detected using an electromyographic examination.
In patients with disorders of purine metabolism, an extremely low production of ammonia is observed, due to which working capacity is significantly reduced 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 even stops.
Peculiarities
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, transforming into uric acid.
Diagnostics
Identification of the disease is extremely difficult and does not always give exact result, since this pathology has many features similar to other disorders in homeostasis. However, with prolonged monitoring of the patient's condition and his analyzes in in general terms, it is quite realistic to detect failures in purine metabolism and the reasons for its occurrence.
Diagnosis can be made based primarily on total absence indicators of the functioning of renal enzymes, active substances of the liver and skeletal muscles. With help laboratory research partial failure can be detected in lymphocytes and fibroblasts.
A 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 products with low content uric acid, and drug therapy.
Pharmacological methods include several stages:
- 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 constant maintenance of a normal level of hyperlipidemia;
- control and normalization of the patient's blood pressure during the day;
- therapy possible complications 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 exacerbations;
- adherence to a certain diet;
- drinking regimen, including 2 liters of water daily;
- the use of local compresses using "Dimexide";
- use of prescribed doses of non-steroidal anti-inflammatory drugs.
Treatment of disorders of purine metabolism can be carried out as in stationary conditions, as well as at home. However, the latter option is acceptable only after consultation with a specialist and confirmation of the diagnosis.
Medical 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, for example, "Allopurinol";
- medicines containing etebenecid - increase the rate of excretion of uric acid from the body;
- mixed drugs.
Long-term drug therapy is appropriate for frequent attacks, a pronounced clinical picture of the disease, the formation of tophi and kidney injury.
In the intervals of remission, patients are also shown a variety of physiotherapy procedures: massage, paraffin baths, ultrasound.
In almost all pathology treatment regimens, doctors mention the observance of a certain diet. A special diet helps the patient to effectively eliminate Negative consequences metabolic disorders. Usually, the first complications that a balanced diet effectively copes with are discord in fat metabolism. Against the background of this pathology, the patient is rapidly gaining weight, and sometimes faces atherosclerosis, coronary heart disease, as well as a steady increase in blood pressure.
In all 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 also excludes purines, has certain restrictions regarding salt, proteins, fats and carbohydrates. The energy value of the daily diet should range from 2700-2800 calories. Daily menu provides for the consumption of 80 g of protein, 90 g of fat, 400 g of carbohydrates.
- lean varieties meat 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 species fish and meat;
- raspberries;
- strong tea and coffee;
- chocolate;
- cocoa powder;
- legumes;
- cranberries;
- sorrel.
A variety of cooking oils are also prohibited.
Subject to a properly selected diet and other components of complex treatment, the patient feels significant relief in just a few weeks.
Acetonemic syndrome in children is a dysfunction of the metabolic system. The condition of a sick child is characterized by a high content of ketone bodies in the blood. In the process of metabolism, they break down into acetone substances. This can provoke the appearance of episodic attacks with abdominal pain. IN severe cases the child develops a coma.
Acetonemic syndrome can be secondary when the disease develops against the background of other disorders of carbohydrate, fat or protein metabolism. Primary idiopathic acetonemic syndrome also occurs in children. In this case, the main provoking mechanism is the hereditary factor. IN Lately increased the incidence of acetonemic syndrome in newborns whose mothers suffered from insufficiency during pregnancy renal function. If the urine of a pregnant woman is periodically determined, and she suffers from constant edema, then the risk of developing intrauterine acetonemic syndrome in the fetus increases many times over.
Violation of the metabolism of purine substances, which provokes the development of acetonemic syndrome, may be associated with the use medicines containing artificial purines.
Symptoms of acetone syndrome in children
Mechanism pathological changes biochemical reactions begin in the kidney structures. This is where the blood is enriched with purines. renal glomeruli unable to adequately process large amounts of purine substances. With the blood flow, they return to the bloodstream in the form of ketone bodies. In the future, these substances require:
- enhanced oxygen supply for their oxidation;
- increase in blood volume to reduce their concentration;
- lower blood glucose levels to utilize acetone.
All these processes form the corresponding clinical picture:
- develops - enhanced ventilation of the lungs;
- the child's breathing quickens;
- the heart rate increases;
- against the background of all this, the child becomes lethargic and apathetic;
- an acetone coma may develop under the narcotic effect of acetone and ketone bodies on brain structures.
But the main symptom of acetonemic syndrome in children is periodic indomitable vomiting with severe pain in the abdomen. It is repeated with a certain episodic character and is distinguished by the constancy of such parameters as duration, amount of vomit and the condition of the child.
Acetonemic syndrome in children is a typical alternation of periods of absolute well-being in the state of a baby with attacks of acetonemic crises. Their clinical picture is described above. The reasons for their occurrence are the accumulation of a critical amount of ketone bodies in the blood of a child.
Treatment of acetone syndrome and prognosis
Treatment of acetonemic syndrome in children comes down to two aspects:
- relief of acetone crisis;
- prolongation of the remission period, in which there is a tendency to reduce the incidence of a crisis under the influence of acetone substances.
To relieve the crisis, prokinetics and cofactors (involved in the metabolic process) are used in combination with enzymatic replacement therapy. In severe cases, intravenous infusion therapy is prescribed. Thus, the electrolyte composition of the blood is restored, fluid losses are replenished, and the level of ketone bodies is reduced. For intravenous infusion, drugs with an alkaline reaction are used. During remission, the focus is on the diet and lifestyle of the child.
Acetonemic syndrome in children is often accompanied by increased nervous excitability, which provokes the release of purines and ketone bodies into the blood. can trigger a crisis. Attention should be paid to the reduction of stress load and the inadmissibility of critical physical exertion.
Diet for acetonemic syndrome
A permanent diet for acetonemic syndrome is the basis successful treatment and prevention of the risk of developing crises. Foods that are sources of large amounts of purines should be excluded from the child's diet. These are meat products, rice, offal, mushrooms, beans, peas, fatty fish.
Introduce easily digestible types of foods into your child's diet. These are eggs, dairy products, vegetables and fruits. Be sure to let your child drink at least 2 glasses of mineral water with a weak alkaline reaction during the day (Borjomi, Essentuki). Useful fresh juices from fruits and vegetables.
If necessary, you can use enzyme preparations to improve digestion. But this can be done only after consultation with your doctor.
Violations and their causes in alphabetical order:
violation of purine metabolism -
Purine metabolism - a set of processes for the synthesis and decay of purine nucleotides. Purine nucleotides consist of a residue of a nitrogenous purine base, a ribose (deoxyribose) carbohydrate linked by a b-glycosidic bond to the nitrogen atom of the purine base, and one or more phosphoric acid residues attached by an ester bond to the carbon atom of the carbohydrate component.
What diseases cause a violation of purine metabolism:
The most important disorders of purine metabolism include excessive production and accumulation of uric acid, such as in gout and Lesch-Nyhan syndrome.
The latter is based on a hereditary deficiency of the enzyme hypoxanthine phosphatidyltransferase, as a result of which free purines are not reused, but are oxidized into uric acid.
In children with Lesha-Nyhan syndrome, inflammatory and dystrophic changes. caused by the deposition of uric acid crystals in the tissues: the disease is characterized by a delay in mental and physical development.
Violation of purine metabolism is accompanied by a violation of fat (lipid) metabolism. Therefore, in many patients, body weight increases, atherosclerosis of the aorta and coronary arteries progresses, coronary heart disease develops, and the arterial pressure.
Gout often accompanies diabetes mellitus, cholelithiasis, significant changes occur in the kidneys.
Attacks of gout provoke alcohol intake, hypothermia, physical and mental overstrain, usually begin at night with severe pain.
Which doctors to contact if there is a violation of purine metabolism:
Have you noticed a violation of purine metabolism? Do you want to know more detailed information or do you need an inspection? You can book an appointment with a doctor– clinic Eurolaboratory always at your service! The best doctors will examine you, study external signs and help identify the disease by symptoms, advise you and provide needed help. you also can call a doctor at home. Clinic Eurolaboratory open for you around the clock.
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Do you have a purine metabolism disorder? You need to be very careful about your overall health. People don't pay enough attention disease symptoms and do not realize that these diseases can be life-threatening. There are many diseases that at first do not manifest themselves in our body, but in the end it turns out that, unfortunately, it is too late to treat them. Each disease has its own specific symptoms, characteristic external manifestations- so called disease symptoms. Identifying symptoms is the first step in diagnosing diseases in general. To do this, you just need to several times a year be examined by a doctor not only to prevent a terrible disease, but also to maintain a healthy spirit in the body and the body as a whole.
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