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Lipoidosis

Lipoidosis (reticuloendotheliosis) is a group of diseases based on specific congenital disorders of lipid metabolism (see Hereditary diseases ). The most studied diseases of this group are Niemann - Pick disease (see), Gaucher disease (see), amaurotic familial idiocy (Tay - Sachs disease), Hend - Schüller - Christian disease. These diseases are caused by the processes of pathological accumulation of certain lipids (cerazine, sphingolipids, etc.) in the cells of the reticuloendothelial and central nervous system due to a defect in the enzyme systems.

Lipoidosis occurs predominantly in childhood. The etiology of lipoidosis is not clear. Hereditary diseases are transmitted by an autosomal recessive type (see. Hereditary diseases), are more common in children whose parents are related by blood.

The main clinical manifestations of lipoidosis are growth retardation, hypogenitalism (see), mental underdevelopment. In the clinical picture, an increase in the liver, spleen , lymph nodes, as well as secondary anemia is observed very early. Often the disease manifests skin changes: urticarial, papular-maculae rashes. Pathogenetic therapy of lipoidosis currently does not exist. The outcome of the disease is unfavorable.

Lipoidosis - a group of diseases characterized by a violation of lipid metabolism and related to diseases of accumulation. By the nature of lipids that accumulate in the cytoplasm of the cell, these diseases are divided into xanthomatosis (the cytoplasm contains cholesterol and cholesterol esters) and sphingolipidoses (the cytoplasm contains compounds of complex lipids). In lipoidosis, intracellular disturbance of lipid metabolism occurs due to a defect in enzyme systems, followed by deposition of certain groups of lipids in the cytoplasm of the cell.

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Disruption of cholesterol metabolism with the predominant deposition of cholesterol, cholesterol esters and neutral fats in the cells of the reticuloendothelial system (xanthomatosis) occurs in diseases of the histiocytosis group X [Hynd— Schüller –Chrischen disease (see), to a small extent Letterera –Siva disease (see) , as well as transitional forms between them]. Histiocytosis X (synonymous with retico-endotheliosis) is characterized by systemic granulomatous damage to the connective tissue (see Histiocytosis). Children under 9-10 years are ill. Diseases are not hereditary. The etiology is not clear. The question is still not resolved: are these diseases granulomatosis with secondary accumulation of lipoids or is the accumulation of lipids due to a violation of intracellular metabolism.

Disruption of the metabolism of lipids containing sphingosine is characteristic of diseases of the group of sphingolipidosis (thesaurimoses). Sphingolipoids are complex lipids and are divided into phosphosphingosides and glycosphingosides. All sphingolipids containing phosphorus, including sphingomyelins, belong to phosphosphingosides, and all sphingolipids containing carbohydrate groups, including cerebrosides and gangliosides, belong to glycosphingosides. When an exchange of certain groups of sphingolipids is disturbed, various types of diseases develop.

The predominant accumulation of sphingomyelins is noted in Niemann - Pick disease (see), and epithelial, reticular and ganglion cells are affected. When Gaucher disease (see) there is an accumulation in the reticuloendothelial cells of glycosphingosides - kerazin and glucocerebrosides. In Tay-Sachs disease, there is an accumulation of gangliosides mainly in the central nervous system cells. When gargoylism (see) violated the exchange of glycosphingosides in nerve cells and the accumulation of mucopolysaccharides in the connective tissue.

Sphingolipidosis, as a rule, congenital diseases, often familial, are inherited recessively. Their etiology is not clear.

Perhaps they are the result of genetically determined deficiency of various enzymes. They are more common in genetically isolated settlements, affecting mostly children and young people.