ферментопатия фото Fermentopathy is a pathological disruption of the functioning of the structures of the human body's enzyme system, caused by the partial or total absence of production of any type of enzyme. The danger of any forms of fermentopathy is due to the fact that even under the condition of a short period of its progress, there is a progressive intracellular accumulation of toxic products of disturbed metabolic metabolism, which have a negative toxic effect on structures or tissues, especially the central nervous system.

Causes of Enzymeopathy

Since enzymes are highly specific chemical compounds, each of which realizes the catalysis of a certain chemical reaction, the absence of even a single enzyme or a violation of its activity will provoke the development of signs of fermentopathy.

In the development of signs of fermentopathy, there are two main etiopathogenetic mechanisms - alimentary and genetically determined. Hereditary enzymopathy can be caused by the presence of a defective gene that completely blocks the production of the enzyme or reduces its activity. The disruption of the enzyme activity is largely due to the instability of the enzyme molecules, which are easily destroyed by the action of other provoking factors. At present, genetic mapping of a patient suffering from enzyme therapy makes it possible to establish reliably the type of disorder that is of great importance in determining the tactics of treatment.

Due to the fact that different categories of enzymes take a direct part in all metabolic processes of the human body, the pathological absence or inadequate activity of a particular enzyme affects the metabolic processes of the cleavage and transformation of proteins, carbohydrates, fats, purines, hormones, minerals and other vital substances important components involved in the performance of the functions of internal bodies and structures.

Secondary fermentopathy is provoked, as a rule, by nutritional deficiencies, that is, a persistent impairment of eating behavior or by the patient's chronic diseases of the digestive system (primarily the distal part of his department) of inflammatory genesis. In addition, in the pathogenesis of the development of acquired types of fermentopathy, the toxic effect of environment mutagens and xenobiotics is important.

A separate category of fermentopathy is food intolerance, caused by the ingestion of food additives into the human body, which are now widely used in food production. Some people note the intolerance of alcoholic beverages, which also has a connection with the violation of the enzyme system. This form of fermentopathy is sporadic and more evident in the eastern countries. Characteristic manifestations of alcohol fermentopathy is a sharp diffusion of reddening of the skin, complicated nasal breathing and the appearance of discomfort in the abdominal region.

Symptoms of Enzymeopathy

The main group of enzymatic disorders are hereditary enzymopathies, which can manifest themselves in different clinical variants, depending on the leading type of metabolic disorders. The predominant clinical symptom of all types of fermentopathies is the symptomatic complex of digestive function disorders, the manifestations of which depend on the localization of the pathological process.

The clinical picture of the acquired variants of fermentopathy consists in the appearance of dyspeptic disorders in the patient with a predominance of gastric, intestinal or pancreatic forms. Dyspepsia of the gastric type is manifested in the appearance of a typical pain syndrome in the projection of the epigastric region, loss of appetite and nausea after eating. Most adult patients suffering from fermentopathy note a change in taste preferences, a constant discomfort in the abdominal region, which has no clear localization.

In a situation where a person experiences intracellular digestion disorders due to fermentopathy, the symptoms of enterocolitis, accompanied by a chronic loosening of the stool, come to the fore, the stool masses do not have the usual consistency, but represent an unformulated mass with signs of fermentation.

A common phenomenon in the long-term course of fermentopathy, especially of a hereditary type, is the development of encephalopathy, the manifestations of which occur with toxic brain damage, however, the pathogenetic mechanism in this situation is the depletion of the energy substrate in the body caused by the enzymatic block. The clinical picture of this form of encephalopathy is accompanied by a rapid increase in symptoms and an aggressive course until the onset of a lethal outcome. Patients suffering from fermentopathy complicated by encephalopathy of the central genesis are prone to impairment of consciousness of varying degrees of intensity, the development of muscle hypotension and hyporeflexia, and hemodynamic disorders.

Fermentopathy in children

In a situation where signs of enzymatic insufficiency are observed in patients of early childhood, and even more so in a newborn child, hereditary character of fermentopathy should be implied. Due to the fact that some forms of hereditary enzymopathy may appear not immediately after birth, but in the late period when diagnosis is difficult, pediatric practices have developed screening methods for all newborns that are produced in the first hours after birth ( galactosemia , phenylketonuria ).

The main specific symptom observed in all forms of fermentopathy in children is a persistent relationship between the deterioration of the child's condition and the intake of one or another food product, and otherwise each form of enzymatic deficiency has typical typical signs and manifestations that allow an experienced pediatrician to diagnose before performing laboratory tests child.

Children suffering from phenylketonuria sharply lag behind not only in physical, but also intellectual-mnestic development, are characterized by increased irritability and emotional lability. Provided there is no timely diagnosis and appropriate treatment, the child develops an increased convulsive readiness, central paresis and ataxia . In addition, this category of patients becomes frequent visitors to the dermatological cabinet, as they have an increased tendency to develop atopic and contact dermatitis of widespread localization.

In connection with the rapid increase in the incidence of hereditary forms of fermentopathy, in recent years, a screening survey methodology has been developed that makes it possible to diagnose this pathology in the fetus on the 16th week of intrauterine development. However, the high cost of this survey, as well as the need to purchase high-quality equipment for its conduct, limits the scope of genetic engineering methods in terms of prenatal diagnosis of fermentopathy.

In the newborn period, when the main source of nutrition for the baby is breast milk, symptoms of fermentopathy due to lactose insufficiency may appear. A characteristic manifestation of this pathology is severe dysbiosis , accompanied by multiple liquid stools, indomitable vomiting and signs of dehydration ( dry skin , spring fontanelle, rapid breathing and palpitation, decreased diuresis). A characteristic manifestation of galactasemia is the increasing icterus of the skin and progressive hepatosplenomegaly, accompanied by the growth of ascitic fluid. In connection with the violation of the liver, the child is developing manifestations of hemorrhagic diathesis. The manifestation of the above symptoms in the child is the justification for stopping breastfeeding and transferring the newborn child to a dietary diet that limits the consumption of milk protein.

Celiac disease, as a manifestation of glutinic intolerance, can develop both in childhood and adulthood and is accompanied by the development of inflammatory changes in the mucous membrane of the small intestine, as a result of which a violation of its absorbing function is observed. In children suffering from celiac disease, there are frequent episodes of gastric and intestinal dyspepsia in the form of nausea, indomitable vomiting, severe pain in the abdominal cavity. A characteristic symptom of this form of fermentopathy is insufficient weight gain in the child and a backlog in terms of physical development. Children with celiac disease are classified as a risk for the development of signs of iron deficiency and folic deficiency anemia, which affect the child's health in the form of increased fatigue, dizziness , dry skin and increased hypoxic tissue damage.

Prolonged progressive course of celiac disease is accompanied by the development of complications in the form of herpetiform dermatitis, manifested by the formation of diffuse vesicle rash with severe itching. A characteristic pathognomonic feature of this rash is its localization in the projection of large joints of the upper and lower extremities. In the absence of timely rendered medical care, pathological changes in the intestine and stomach are prone to malignization.

Treatment of fermentopathy

The primary and most effective method of treating fermentopathy in the initial stage of development is the correction of eating behavior. Dietotherapy with fermentopathy implies a complete elimination of the fact that substances that are intolerable to the body with foodstuffs are received, even in a minimal amount. In most cases, compliance with a specialized individual diet allows you to exclude the use of medication and other types of treatment. Dietary nutrition allows to preserve the child's phenotype, preventing the development of signs of physical and mental underdevelopment.

In a situation where the patient has an endocrine-type enzymopathy, the only pathogenetically justified treatment is hormonal therapy in a sustained course in a maintenance dosage. Some enzymopathies, accompanied by a violation of vitamin metabolism, require the appointment of vitamin-containing synthetic drugs (Pyridoxine 20 mg per day parenterally in the pathology of Comrover-Knapp and homocystonuria, Calcium D3 Nycomed for 1 capsule 2 p / day with available signs of phosphate-diabetes, Biotin in a daily dosage 10 mg orally in the syndrome of malabsorption).

Parenteral administration of purified placental enzymes is useful with a limited spectrum of fermentopathy (Fabry's disease, Gaucher's disease ), but due to the increased risk of an immunological reaction to the introduction of a protein foreign to the body, this method of treatment can not be considered appropriate. To eliminate this side effect, it is recommended to introduce liposomal form of enzymes, especially in pathologies of accumulation.

In the last decade, surgical techniques for the treatment of fermentopathy have been developed, based on bone marrow and internal organ transplantation (kidney transplantation in Fabry syndrome, subcutaneous fibroblast replanting with mucopolysaccharidosis ).

The only pathogenetically substantiated method of treatment of hereditary forms of enzyme therapy is gene therapy, which in 90% of cases excludes phenotypic signs of the disease.