Unstable hemoglobins are understood as such anomalous hemoglobins, which due to the instability of the molecules precipitate in the erythrocyte, which leads to anemia. In 1952, a sick chil...

Torsional dystonia ( deforming muscle paging) is a disease with various manifestations and the nature of genetic disorders. Basically torsion dystonia is manifested involuntary contractions of ...

Carbohydrates are complex organic compounds that perform a number of important functions in the human body. Carbohydrates, consisting of one molecule, are called monosaccharides;of two bound mole...

This hereditary disease is transmitted by an autosomal recessive type. It is manifested by increased sensitivity to sunlight, expressed by reddening on the face, which is associated with the e...

Clinical syndromes in these diseases deserve special consideration. Hereditary and congenital diseases of the kidneys differ in a marked variety of clinical manifestations, even within the same p...

The concept of congenital malformations of the lungs is inextricably linked with the understanding of the basic patterns of the formation of the bronchopulmonary system. The lung of a person i...

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 l...

This is an extremely rare hereditary disease that is characterized by increased sensitivity to ultraviolet rays, darkening and thinning of the skin, photophobia and other changes on the part o...

Disease is inherited by autosomal dominant type. When examining a person with such a syndrome, multiple small pigment spots around and in the mouth, on the lips, around the nose and eyes, rare...

Level VIII of the clotting factor from 0 to 1% causes an extremely severe form of the disease, from 1 to 2% - severe, 2 to 5% - moderate, above 5% - light form, but with the risk of severe and ev...

Defect of the interventricular septum is one of the most common congenital heart defects. It was first described by P. Tolochinov in 1874 and Roger in 1879. There are two main variants of the ...

The disease is inherited by autosomal recessive type and is one of the most important causes of severe liver damage in childhood. The disease is usually of a family nature, therefore, a hereditar...

The occurrence of malformations of the gastrointestinal tract is the result of the influence of genetic and external factors affecting the fetus in the intrauterine period. One of the severe a...

Alveolar microlithiasis is a rare disease inherited in an autosomal recessive type and characterized by the formation of minute stones in the lung alveoli. There are reports of microlithias...

Non-diabetes mellitus is a disease associated with a lesion of the posterior lobe of the pituitary or hypothalamus with a decrease in the secretion of the antidiuretic hormone. Do not confuse ...

Hemophilia B is a hereditary hemorrhagic diathesis, characterized by a deficiency of the activity of factor IX of blood coagulation( plasma component of thromboplastin).Hemophilia B was first ...

Stewart-Prower's disease is a rare disease that is transmitted through an incomplete autosomal recessive type of inheritance. Both very heavy forms and light and hidden varieties are possi...

Chronic glomerulonephritis is a group of renal diseases characterized by constant progressive inflammatory, sclerotic and destructive lesions of the kidney tissue followed by sclerosis and freque...