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A group of enzymopathies in which the breakdown and synthesis of glycogen are disrupted, which leads to its accumulation in various organs (liver, kidneys, muscles) Etiology. The type of inheritance is an autosomal recessive disease, depending on the nature of the enzyme defect, 12 types are distinguished. Diagnostic criteria Type I - hepatorenal glycogenosis (Girke's disease). Clinical criteria: hepatomegaly (dense liver with a smooth surface), large abdomen; growth retardation, “puppet” type of a child (short stature, short limbs, enlarged abdomen, muscle strength is reduced), on the skin - xanthomas; in the first weeks of life: lethargy, adynamia, sometimes vomiting, malnutrition; hypoglycemic conditions: pallor, sweating, convulsions, coma; due to hypoglycemia, appetite is increased; mental development does not suffer; sexual development is late. On palpation - enlargement of the liver, dense, smooth, painless, the edge descends into the small pelvis. Laboratory data: fasting hypoglycemia, the diabetic nature of the glucose tolerance test, the absence of an increase in blood sugar in response to the administration of adrenaline and glucagon, hyperketonemia, acetonuria; an increase in glycogen content in liver cells (in the study of biopsy), an increase in glycogen content in peripheral blood cells. Hyperlactatemia, hyperuricemia are also characteristic. Type II - glycogenic cardiomegaly (Pompe disease). It manifests itself as a common deposition of glycogen in the liver, kidneys, heart muscle, in the nervous system, skeletal muscles.
Clinical manifestations after birth: anorexia, vomiting, muscle weakness, shortness of breath, cyanosis, increased heart size, progressive heart failure according to the right ventricular type; frequent pneumonia on the background of atelectasis with severe respiratory failure; externally: round pasty face, enlarged tongue, muscle hypotension, delayed physical development. Neurological disorders associated with muscle weakness. Laboratory data in the analysis of blood and urine unchanged. In liver biopsy samples, a large amount of glycogen. Type III - limitdextrinosis (Forbes disease — Measles). Incomplete breakdown of glycogen and the formation of a polysaccharide with shortened terminal branches of the molecule. The clinic is like I type. The difference is an increase in blood sugar during galactose loading. Survey Plan: 1) general analysis of blood, urine, urine for acetone; 2) determination of fasting blood sugar after a load of carbohydrates; 3) test with adrenaline and glucagon; 4) a study of blood serum (proteinogram, cholesterol, lipids, activity of liver enzymes); 5) determination of glycogen in a biopsy of the liver, in peripheral blood cells; 6) ECG and FCG; 7) optometrist consultation.
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- Glycogenoses (diseases of the accumulation of glycogen)
Glycogenosis - a group of hereditary disorders (diseases) of glycogen accumulation and / or its utilization, creating a deficiency in ways to maintain blood glucose and / or energy (muscle) generation. Glycogenosis (type III) was the first hereditary liver disease for which it was possible to uncover the nature of the primary enzymatic defect. By tradition, glycogenoses have a numerical classification,
- Violation of the synthesis and breakdown of glycogen
The synthesis of glycogen can vary in the direction of both reduction and amplification. The increased breakdown of glycogen occurs during stress, emotional stress (activation of the sympathetic nerve pathways), hard muscle work, starvation, increased activity of hormones that stimulate glycogenolysis (glucagon, adrenaline), and diabetic ketoacidosis. Decreased glycogen synthesis observed in severe
- Heart disease in metabolic disorders
Metabolic disorders in the body always affect the course of metabolic processes in the myocardium, often causing a violation of its function and structure. In various diseases, one or several metabolic pathways may be initially disturbed, which in the future necessarily affects the energy supply of the heart muscle. With some metabolic disorders in the interstitial tissue of the myocardium and in
- Inherited metabolic diseases
Hereditary metabolic diseases are a monogenic pathology in which gene mutation entails certain pathochemical disorders. The classification is as follows. 1. Inherited diseases of amino acid metabolism: alkaptonuria, albinism, hypervalemia, histidinemia, homocystinuria, leucinosis, tyrosinosis, phenylketonuria. 2. Hereditary carbohydrate metabolism diseases: galactosemia, glycogenosis, disaccharidase
The term "cardiomyopathy" was first used in 1957 to refer to a group of myocardial diseases of unknown etiology. In 1972, the following definition of cardiomyopathy was given: "Cardiomyopathy is an acute, subacute or chronic lesion of the heart muscle of unknown or unclear etiology, often combined with damage to the endocardium, sometimes the pericardium." This definition is accepted.
- Hereditary diseases of the nervous system
Hereditary diseases of the nervous system is a large heterogeneous group of diseases, which are based on genetically determined damage to peripheral nerves, spinal cord, and skeletal muscles. Classification I. Hereditary metabolic diseases occurring with damage to the nervous system. 1. Inherited disorders of amino acid metabolism:
Mac-Ardle-Pearson disease See Type V Glycogenosis. Macleoda syndrome Unilateral lung dystrophy, manifested by "super-transparency of the lung." The development of pathology is associated with sclerotic changes in the pulmonary parenchyma after acute bronchiolitis. DN is noted against the background of chronic unilateral obstructive bronchitis. X-ray revealed a decrease in the size of the pulmonary
- Rare myocardial diseases
The following are rare heart diseases in newborns. • The heart muscle is involved in the pathological process in a number of hereditary genetically caused diseases. ? Phacomatoses (neurofibromatosis, tuberous sclerosis of Bourneville-Pringle). The combination of skin, neurological and cardiac changes in the patient (myocardial hypertrophy, rhabdomyoma) helps to make the correct diagnosis. ? Disease
- Hypoglycemic coma
Hypoglycemic coma is caused by a disruption in the supply of the cerebrum, glucose and oxygen due to a significant or rapid drop in blood glucose. The main causes of hypoglycemia in diabetes mellitus: 1. Inadequate food intake. 2. Large physical activity (without dose adjustment of insulin). 3. An overdose of insulin. 4. Drinking alcohol. Non-diabetic causes of hypoglycemia: 1.
- Hypoglycemic conditions
Another characteristic manifestation of a carbohydrate metabolism disorder is hypoglycemia. Hypoglycemia (hypoglicaemia; Greek hypo - lowering, decreasing something + Greek. Glykys - sweet + Greek. Haima - blood) - lowering blood sugar less than 4.44, actually less than 3.5 mmol / l. Hypoglycemia is considered more dangerous than hyperglycemia, a pathological condition and is observed when exposed
- Restrictive Cardiomyopathy
Restrictive cardiomyopathy (RKMP) is known in two variants of Fanei considered as two independent pathological processes) - endocardial fibrosis and endomyocardial fibroelastosis * eFlera. The pathomorphological picture in two diseases differs little and is characterized by a sharp thickening of the endocardium in combination with ventricular myocardial hypertrophy, the cavities of which
- Disease de Tony-Debre-Fanconi
DE TONI-DEBRE-FANCONI DISEASE is inherited in an autosomal recessive manner, characterized by a predominant lesion of the proximal tubules of the nephrons (thinning, degenerative changes). The glomeruli and interstitium of the renal parenchyma with the gradual development of fibrosis and sclerosis are involved. There are tubular dysfunctions, manifested by a decrease in the reabsorption of water, phosphates, sodium, potassium,
- Dysfunction of the nervous system caused by a hereditary metabolic disorder
Disorders of the nervous system during congenital metabolic disorders arise as a result of the influence of several factors: • direct damage to nerve cells due to an enzyme deficiency; • accumulation of certain unsplit metabolic products in the outside of the cell fluid; • damage to other organs (eg, liver); • damage to cerebral vessels.
- GENETIC HETEROGENEITY
When clinically similar conditions in different families are caused by various genetic defects, they speak of genetic heterogeneity of hereditary diseases. The accepted names of many pathological conditions or even diseases often hide their inherent heterogeneity, giving the appearance of homogeneity. Under each, for example, from names such as “bleeding syndromes,”
- Vizer V.A .. Lectures on therapy, 2011
On the subject - almost completely cover the difficulties in the course of hospital therapy, the issues of diagnosis, treatment, as stated, are concise and quite affordable. Allergic lung diseases Joint diseases Reiter's disease Sjogren's disease Bronchial asthma Bronchiectasis Hypertension Glomerulonephrosafasdit Esophageal hernia Destructive lung diseases
- ALLERGIC LUNG DISEASES
In recent decades, a significant increase in the number. patients with allergic diseases of the bronchopulmonary apparatus. Allergic lung diseases include exogenous allergic alveolitis, pulmonary eosinophilia, and drug