ABETALIPOPROTEINEMIYA (abetalipoproteinaemia; a Greek negative prefix and - beta lipoprotein and grech, haima — blood) — a hereditary disease, to-rogo the disturbances of a resorption and transport of lipids connected with deficit or total absence of beta lipoproteids are the cornerstone. And. often has family character. The disease is biochemical and clinically shown on the 1st year of life of the child.
Disturbance of transport of lipids leads to decrease in contents in an organism of irreplaceable highest polyunsaturated fatty acids, in particular linoleic to - you, the phospholipids, necessary for synthesis, which are playing a large role in formations of substance of a brain and being a part of a cover of erythrocytes.
In phospholipids of erythrocytes decrease linoleic to - you by 5 times in comparison with norm is noted that leads to reduction of synthesis of lecithin and is the reason of emergence in blood of gear erythrocytes (acanthocytosis).
At And. the kcal, vomiting, pallor of integuments, fervescence is periodically observed light liquid. Children lose flesh, anemia develops. There is a hypotrophy of muscles of extremities, the stomach is blown up, the person bloated. Adjournment of a pigment in a retina is in some cases observed that leads to a retinitis. Further the neurologic symptomatology is noted: nystagmus, hypotonia of muscles and cerebellar ataxy.
Diagnosis is established not so much on a clinical picture how many according to laboratory researches. In blood — gear erythrocytes, in blood serum are absent beta lipoproteids, the level of the general lipids, triglycerides, cholesterol and phospholipids decreases. After reception of greasy food at And. increase in maintenance of lipids in blood is not observed.
Calais contains a large number of lipids. At a biopsy of intestines the overload fat of cells of a mucous membrane comes to light; in cells of a liver kupferovsky inclusions sometimes are found.
Differential diagnosis it is carried out with a Gee's disease (see) at which there is no neurologic symptomatology and there are beta lipoproteids in blood; Refsum's syndrome — hereditary defect of a lipometabolism with accumulation 3, 7, 11, 15-tetramethylhexadecanoic to - you at simultaneous saving the normal contents of the general lipids and their fractions in blood (see Refsum a syndrome); with a steatorrhea at a mucoviscidosis (see) when activity of enzymes in a secret of a duodenum decreases, the content of chlorine and sodium in a secret of sweat glands changes; level of phospholipids is reduced by an analfalipoproteinemiya (Tanzhir's disease) at which the hypercholesterolemia is noted, the content of triglycerides, in cells of a liver is increased, a spleen and marrow adjournment of cholesterol is found.
Treatment symptomatic. Parenteral administration linoleic to - you promote weakening of clinical manifestations.
Bibliography: Schreier K. Die angeborenen Stoffwechselanomalien, S. 79, Stuttgart, 1963.
Yu. A. Baryshkov.