Glycogen disease( glycogenoses)
Jun 17, 2018
Glikogennaya disease unites a group of diseases in which the processes of cleavage and synthesis of glycogen are violated, which is accompanied by its excessive accumulation in the cells of the liver, kidneys, muscles or the development of generalized glycogenosis, that is, the deposition of this carbohydrate in all kinds of organs and tissues of the body simultaneously. The disease was first described in 1901. An autosomal recessive type of inheritance of this disease is assumed. In total, currently 12 types of glycogenesis are isolated, although only 6 of them have been sufficiently studied.
type I - hepatic renal glycogenosis( Girke's disease). The main manifestations of the disease are an increase in liver size, growth retardation, a decrease in the amount of sugar and an increase in serum lipids. In the first weeks of a child's life, you can notice that he becomes sluggish, moves little, reduces appetite until completely absent, sometimes vomiting, the child does not gain sufficient weight, which leads to the development of hypotrophy. Increasing the size of the liver is a mandatory sign of the disease. A significant increase in the size of the abdomen leads to a curvature of the spine in the lumbar region. The size of the kidneys can increase, the size of the spleen remains within normal limits. In some children, convulsions and coma may occur due to a sharp decrease in blood glucose. Disturbances from the gastrointestinal tract usually does not happen. In the event that the child does not feed on time, he becomes pale, sluggish, sweating develops. Neuropsychic development of the child remains normal. Small growth, excessive deposition of fat in the subcutaneous fat in older children gives the child a typical "puppet" appearance.
When a biochemical blood test shows a decrease in glucose, the cholesterol content, on the contrary, is increased. In urine, enough protein is often found, sometimes glucose, often acetone. With a glucose load, the sugar content in the blood rises significantly and slowly falls, which resembles the sugar curve in diabetes. The study of the sugar concentration during the day reveals significant fluctuations: fasting glucose is at extremely low numbers, after eating, its content rises sharply. Special methods of investigation reveal a large amount of glycogen in leukocytes - white blood cells. In pieces of liver obtained by biopsy, a significant accumulation of glycogen is also found.
Type II -( Pompe shape) .At the II type of glycogenosis in most tissues of the body glycogen is deposited. Its content in muscles reaches 10-20%, in the heart muscle - 6-12%.Significant amounts of glycogen are found in the liver, kidneys, nervous system. The main signs of this type of disease include symptoms of damage to the cardiovascular or neuromuscular systems. Soon after birth, the child develops a common cyanosis( bluish coloration of all skin), respiratory distress, anxiety, in the future the child becomes inactive. In addition, you can note unusually large size of the tongue, drowsiness, decreased muscle tone. The size of the heart increases, it acquires a spherical shape, noise appears. Appearance in some children already at birth is very similar to the manifestations of Down's disease. Children usually die on the 1 st year of life from heart failure or from pneumonia. The predominance of neuromuscular disorders is expressed in muscular dystrophy, from the moment of birth a decrease in muscle tone is detected, reflexes are flaccid, difficult to evoke. Muscular weakness progresses, the child can not hold his head and maintain a posture due to the complete absence of the muscles of the limbs. In the study of pieces of liver tissue and muscles, the accumulation of glycogen in cells is detected. The sugar content in the blood, sugar curves and other samples with a load usually remain within normal limits.
Type III .Currently, various variants of type III of the disease are known, denoted by the letters A, B, C. These variants differ from each other in different ratios of glycogen content in the liver and in muscles. So, with the most frequent form - limidextrinose A - the highest amounts of glycogen are contained in the liver, muscles, erythrocytes. The manifestations of this type of glycogenosis are very diverse: it is possible to develop muscular dystrophy, there is an increase in the size of the stomach due to the increase in the liver, a decrease in muscle tone, a decrease in reflexes. In some cases, signs of damage to the heart muscle are revealed - an increase in the size of the heart, a characteristic change in the ECG.In adults, the disease can be manifested only by signs of muscle damage. Blood sugar is usually lowered, acetone is often found in the urine.
Type IV. The leading signs of this type of glycogenesis are an increase in the size of the liver and spleen and the development of liver cirrhosis.
Type V .In 1951, for the first time, a peculiar disease was described, in which there were pains in the muscles and general weakness developed after physical exertion. Later, it was proved the existence of an accumulation disease - neuromuscular glycogenosis, associated with the insufficiency of a certain enzyme. In addition to muscle weakness, this type of glycogen disease reveals muscle spasms, palpitations. The muscle tissue contains excess glycogen.
The liver damage in the form of an increase in its size( hepatomegaly) was noted in the VI type of glycogen disease, as well as in a number of other less well-studied types.
VII type of glycogen disease is manifested by signs of muscle weakness, increased fatigue after exercise, the absence of lactic acid in the muscles that forms in a healthy body after physical exertion. In the study of muscle tissue obtained by biopsy, 2-9% glycogen is found in it.
Specific treatment of glycogen disease does not exist yet, although the first attempts to introduce the missing enzymes were made to patients. Recommended frequent meals, rich in carbohydrates, low in fat. In some cases, the effect of using the hormone glucagon is observed. In other cases, the treatment is aimed at eliminating all the symptoms. When V type of disease requires physical activity restrictions. When a threat of excessive decrease in the amount of glucose in the blood is recommended, frequent meals rich in carbohydrates.
Forecast. For type I disease, the prognosis may be unfavorable for children under four years of age due to a decrease in the body's resistance to infection, as well as the frequent excessive decrease in glucose in the blood. However, before and during puberty, children develop quite satisfactorily. Very poor prognosis in type II: children die early from heart failure. The same is true for type IV, in which hepatic insufficiency and pneumonia are the cause of death. For types III and V, the prognosis is favorable. Due to the insufficient number of observations, it is not yet possible to judge the prognosis for VI and other types of glycogen disease.