FRUKTOZEMIYA

From Big Medical Encyclopedia

FRUKTOZEMYYa (fructose [a] + Greek haima blood; 'synonym: a syndrome not of

portability of fructose, family intolerance of fructose) — the hereditary disease caused by deficit of enzyme of fructose diphosphate ldo manholes In, which is followed by disturbance of metabolism of fructose in an organism.

In 1956 Cheymbers and Pratt (And. A. Chambers, R. T. Pratt) for the first time described the intolerance of fructose at the 24-year-old woman which is shown nausea and vomiting after consumption of fruit or saccharobiose. In 1957. E. R. Froesch et al. described intolerance of fructose (see) at two sibs (see the Proband) and two relatives and established the hereditary nature of a disease.

The disease is inherited on auto - somno - recessively to type (see Inheritance). With the help immunol. a method it is established that the content of frukto-zodifosfat-zymohexase B in a liver of patients F., and also it biol. activity are considerably reduced. Metabolism of fructose at patients F. it irery-vatsya at a stage of formation of fruktozo-1-phosphate, accumulation to-rogo in fabrics exerts toxic impact on a row of fermental systems of a cell.

At patomorfo l. a research fibrosis or cirrhosis comes to light (see the Liver, pathological anatomy).

The disease is shown from first weeks and months of life of the child, i.e. since that moment when he begins to receive sweet tea, juice, vegetable and fruit purees.

Main symptoms F. are the vomiting arising soon after meal, containing fructose, and hypoglycemic crises up to development of a coma (see Côme, hypoglycemic). At patients dysfunction is observed went. - kish. path, anorexia, slackness, pallor of skin, Crocq's disease, patol. drowsiness, edges can pass into a sopor and a coma. A bit later the liver increases. In some cases damage of a liver is dominating in a wedge, a picture of a disease, at the same time persistent jaundice (see), a hypoalbuminemia is observed (see P roteinemiya). In case of constant and long intake of fructose in an organism of the child at children of early age further increase in a liver, strengthening of jaundice, increase of vomiting, change in blood and urine are noted, the hypotrophy (see), fibrosis or cirrhosis develops (see). At children of advanced age and adults the intolerance of fructose can be shown only by disgust for sweet food.

The diagnosis is made on the basis of bio-chemical blood analysis and urine. For patients F. the riya (see), an aminoaciduria (see), sometimes to a protein a riya (see) and to a leukocyte a riya is characteristic fructose (see). Level of glucose in blood on an empty stomach within norm or is a little reduced, the content of fructose is increased. After loading fructose (enter 0,2 — 0,5 g of fructose on 1 kg of body weight intravenously) its content in blood increases up to 170 mg / iOO of ml, at the same time concentration of glucose decreases to 4 — 10 mg, 100 ml. Due to the danger of a hypoglycemic coma test with loading fructose should be carried out carefully; more often it apply to identification of heterozygotes (see Mendel laws), than to diagnosis of a disease. A certain diagnostic value has a research of level of glucose and fructose in blood before feeding of the child. At F. also the hypophosphatemia { see Fosfatemiya), a hyperbilirubinemia (see), the increase in activity of hepatic fraction of an alkaline phosphatase defined at a biopsy of a liver is observed.

Differential diagnosis is carried out with intestinal infections, malformations of intestines (see Intestines), a mucoviscidosis (see), an inborn adrenogenital syndrome (see), a galactosemia (see), and also high-quality fructose-uriyey, the secondary fruktozuriya caused by severe damage of a liver, and the fruktozuriya caused by hereditary deficit of enzyme of fruktozo-1,6-diphosphatase (see Fructose a riya).

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Specific treatment F. it is not developed. The diet with an exception of sucrose, fruit, honey is shown to patients. Most of children of advanced age and adults sick F., avoid reception of sweet dishes. In the acute period of a disease bystry improvement of a state is observed after intravenous administration of glucose.

The forecast at observance of a diet, as a rule, favorable.

Bibliography: Badalyan JI. Lake, Thabo lean V. A. and Veltishchev Yu. E. Hereditary diseases at children, page 108, M., 1971; The Inborn and acquired enzymopathies, under the editorship of T. Tashev, the lane with bolg., page 52, M., 1980; Chambers R. A. a. P r a t t R. T. Idiosyncrasy to fructose, Lancet, v. 2, p. 340, 1956; The metabolic basis of inherited disease, ed. by J. B. Stanbury and. lake, N. Y. a. o., 1978. V. A. Tabolin.

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