fermentopathy - a pathological disruption of the functioning structures of the enzyme system of the human body, due to the partial or total lack of production of a type of enzyme.The danger of any form fermentopathy due to the fact that even with a short course of her celebrated progressive intracellular accumulation of toxic metabolic products of disturbed metabolism, which have a negative effect on the structure of toxic or tissues, especially the central nervous system.
Since enzymes are highly specific chemical compounds, each of which implements a specific catalysis of chemical reactions, the absence of even a single enzyme or a violation of its activity will trigger the development of signs fermentopathy.
in the development of signs fermentopathy holds two main etiopathogenic mechanism - nutritional and genetically determined.Hereditary fermentopathy may be due to the presence of the defective gene, completely blocking the production of the en
Due to the fact that different categories of enzymes directly involved in all metabolic processes of the human body, a pathological lack of or insufficient activity of a particular enzyme affects the metabolic processes of cleavage and transformation of proteins, carbohydrates, fats, purines, hormonal substances, minerals andother vital components involved in performing the functions of internal organs and structures.
Secondary fermentopathy provoked usually alimentary disorders, ie, persistent eating disorders, or available in a patient with chronic diseases of the digestive tract (predominantly distal his department) inflammatory genesis.Furthermore, in the pathogenesis of the acquired types fermentopathy matter toxic effect environmental mutagens and xenobiotics.
fermentopathy separate category is food intolerance due to intakes of food additives, which are currently widely used in food production.Some people say intolerant of alcohol, which also has a connection with the violation of the enzyme system.This form fermentopathy sporadic and mostly appears in the eastern countries.Characteristic symptoms of alcohol fermentopathy is a dramatic diffuse redness of the skin, shortness of nasal breathing and the emergence of discomfort in the abdomen.
main group of enzymatic disorders constitute hereditary fermentopathy that may manifest different clinical variants, depending on the type of host metabolic disorders.The predominant clinical symptom of all types fermentopathia is a symptom disorders of the digestive function, symptoms depend on the localization of the pathological process.
clinical picture acquired options fermentopathy is the appearance of the patient's dyspeptic disorders with prevalence of gastric, intestinal or pancreatic their shape.Dyspepsia gastric type manifests itself in the form of the appearance of a typical pain in the projection of the epigastric region, loss of appetite and nausea after eating.Most adult patients fermentopathy, mark a change of taste preferences, constant discomfort in the abdomen, with no clear localization.
In a situation where a person has observed violations of intracellular digestion due fermentopathy, the fore symptoms of enterocolitis, accompanied by chronic loose stools, and stool are not usual consistency, and are unformed mass with signs of fermentation.
widespread phenomenon in continuous flow fermentopathy, especially hereditary type, is the development of encephalopathy, manifestations of which are similar to toxic brain damage, however, pathogenetic mechanism in this situation is the depletion of energy substrate in the body due to enzymatic block.The clinical picture of this form is accompanied by a rapid increase of encephalopathy symptoms and aggressive course until the onset of death.Patients fermentopathy complicated encephalopathy central genesis, prone to disturbance of consciousness of varying degrees of intensity, the development of muscular hypotonia and hyporeflexia, hemodynamic disorders.
In a situation where there are signs of enzyme deficiency in patients early childhood, and especially in the newborn child should imply hereditary fermentopathy.Due to the fact that some forms of hereditary enzimopatii may occur immediately after birth, and in the long term, when the diagnosis of difficult in pediatric patients have developed a technique for screening all newborns, which are produced in the first hours after birth (galactosemia, phenylketonuria).
main specific symptoms observed in all forms of fermentopathy in children is persistent connection deterioration of the child with the reception of a food product, but otherwise each form of enzyme deficiency is characteristic of the typical signs and symptoms, allowing an experienced pediatrician to diagnose until the laboratorymethods of examination of the child.
Children with PKU dramatically lag behind not only physically, but also intellectually-mental development, characterized by increased irritability and emotional lability.In the absence of timely diagnosis and appropriate treatment, the child develops increased convulsive readiness, central paresis and ataxia.In addition, this category of patients become frequent visitors dermatological cabinet, as they have an increased tendency to develop atopic and contact dermatitis common localization.
Due to the rapid increase in incidence of hereditary forms fermentopathy in recent years has developed screening method of the survey, allowing to diagnose the pathology of the fetus at 16 weeks of fetal development.However, the high cost of the survey, as well as the need to purchase high-quality equipment to carry it out, limits the scope of genetic engineering techniques in terms of prenatal diagnosis fermentopathy.
in the neonatal period, when the main power source for the baby is breast milk, may show symptoms fermentopathy due to lactase deficiency.A typical manifestation of this disease is a severe dysbiosis severity, accompanied by multiple loose stools, uncontrollable vomiting and signs of dehydration (dry skin, retraction fontanelle, rapid breathing and heart rate, decreased urine output).A typical manifestation of a growing galaktazemii yellowness of the skin and progressive hepatosplenomegaly, accompanied by an increase of ascites.In connection with impaired liver function, a child growing manifestations of hemorrhagic diathesis.The manifestation of the child above symptoms is a justification for stopping breastfeeding and translation of a newborn baby on a diet diet, limiting consumption of milk protein.
Celiac disease as a manifestation of celiac intolerance may develop in childhood and adult age period and accompanied by the development of inflammatory changes in the mucosa of the small intestine, so that there is a violation of its absorptive function.In children suffering from celiac disease have frequent episodes of gastric and intestinal dyspepsia in the form of nausea, uncontrollable vomiting, severe pain syndrome in the abdomen.A characteristic symptom of this form fermentopathy is insufficient weight gain in a child, and the gap in terms of physical development.Children with celiac disease are classified as at risk of developing symptoms of iron deficiency anemia and folievodefitsitnoy that affect the health of the child in the form of fatigue, dizziness, dry skin and build-up of hypoxic tissue damage.
long progressive course of celiac disease associated with the development of complications such as dermatitis herpetiformis, manifesting the formation of diffuse vesicular rash with severe itching.A characteristic feature of this rash patognormonichnym is its location in the projection of the major joints of the upper and lower extremities.In the absence of timely medical care provided pathological changes in the intestine and the stomach are prone to malignancy.
primary and most effective treatment fermentopathy in the initial stage of development is the correction of eating behavior.Diet therapy at enzymopathies involves complete elimination of the fact of receipt intolerable body substances with food, even in a minimal amount.In most cases, compliance with individual specialized diet eliminates the use of medication and other treatments.Dietary food preserves the phenotype of the child, preventing the development of symptoms of physical and mental retardation.
In a situation where the patient has fermentopathy endocrine type only pathogenetically substantiated treatment is hormone therapy long course in the maintenance dose.Some enzimopatii accompanied by violation of the vitamin metabolism, need to appoint a vitamin-containing synthetic drugs (pyridoxine 20 mg per day parenterally in pathology Komrovera-Knapp and gomotsistonurii, Calcium D3 Nycomed 1 capsule 2 p / day with having the characteristics of phosphate diabetes Biotin in daily dosage10 mg orally at malabsorption syndrome).
Parenteral administration of purified placental enzymes with a limited range of applicable fermentopathy (Fabry's disease, Gaucher's disease) finds its application, but because of increased risk of immunologic reaction to a foreign protein to the body, this treatment can not be considered appropriate.In order to eliminate this side effect it is recommended to introduce the form of liposomal enzymes, especially in pathologies accumulation.
In the last decade were developed surgical methods of treatment fermentopathy based on bone marrow transplantation and organ (kidney transplantation at the syndrome Fabry subcutaneous grafting fibroblasts mucopolysaccharidosis).
only pathogenetically substantiated treatment of hereditary forms fermentopathy is gene therapy, allowing 90% of the phenotypic features eliminate the occurrence of the disease.