Multiple epiphyseal dysplasia is a large group of genetically heterogeneous skeletal dysplasias, which are united by a violation of the formation of the enchondral spongiose bone in the area of the metaphyses and epiphyses of bones, as well as (in some cases) vertebral bodies. The symptoms of this condition vary depending on the type of…
Pseudoxanthoma elasticum is a genetic disease from the group of connective tissue dysplasia, in which mineral dystrophy of elastic fibers occurs. Pathology is manifested by multiple yellow plaques on the skin, loss of elasticity of the skin, damage to the eyes and cardiovascular system. The diagnosis requires data from histological analysis of the dermis, molecular…
Citrullinemia is a rare autosomal recessive hereditary disease characterized by a violation of the urea cycle. Occurs with defects in the ASS1 or SLC25A13 genes. In infants, pathology is manifested by neurological disorders (drowsiness, convulsions, depression of consciousness), delayed psychomotor development, adults are also concerned about headaches, psychoemotional disorders. For diagnosis, biochemical blood tests, genetic…
Cystinosis is a hereditary disease belonging to the group of lysosomal accumulation diseases and characterized by impaired metabolism of the amino acid cystine, which leads to the formation of its crystals in the cells of various organs. The severity of the symptoms of this disease depends on the form of pathology, the main manifestations are…
Chronic granulomatous disease is a rare form of primary immunodeficiency, in which the bactericidal function of phagocytes is disrupted. It is a hereditary disease, mainly transmitted by the X-linked recessive type. Pathology is manifested by recurrent infections of the lungs, gastrointestinal tract, skin and other organs. Flow cytometry, genetic testing, and microbiological studies are used…
Chondrodysplasia is a common name for a group of hereditary diseases caused by a violation of the formation or ossification of cartilage tissue. They arise as a result of gene mutations, are inherited both by autosomal dominant and autosomal recessive type. Pathologies are manifested by stunting, various shortening and deformities of the limbs, joint damage.…
Hereditary fructose intolerance is a hereditary fermentopathy, which is based on a violation of the metabolism of fructose and the accumulation of its metabolic products, which are toxic to many organs and systems. This pathology begins to manifest itself from the very first years of life when eating products containing fructose. Symptoms include vomiting, abdominal…
Phosphate diabetes is a genetically determined violation of mineral metabolism, in which the absorption and assimilation of phosphorus compounds in the body suffers, which leads to pathology of the bone system. According to the latest data, it is a whole group of hereditary diseases. It is manifested by hypotension of muscles, rickety changes in the…
Triple X syndrome is a common variant of aneuploidy in women, in which an additional female sex chromosome is present in the karyotype. The condition may be manifested by the early onset of menarche, delayed neuropsychiatric development, emotional lability. At the same time, in most women, the syndrome is asymptomatic, often the pathology is not diagnosed…
