General Practitioner. Work experience in medicine - 7 years. I consider it necessary to constantly educate myself and improve my skills, I adhere to the principles of evidence-based medicine in my work, I am guided by the well-known rule "Do no harm". My credo in life is "If you want to do something well, do it yourself."

Phosphate Diabetes

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

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…

Tyrosinemia

Tyrosinemia is a rare hereditary disease from the group of amino acid metabolism disorders that occurs due to the lack of enzymes necessary for the biochemical transformations of tyrosine. Pathology is manifested by severe liver damage, blood clotting disorders, neurological complications and developmental delay. Diagnostics includes specific biochemical analyses, genetic tests, instrumental imaging (ultrasound of…

Spondyloepiphyseal Dysplasia

Spondyloepiphyseal dysplasia is a genetically heterogeneous hereditary disease from the group of osteochondropathies characterized by malformations of the vertebrae, epiphyses of long tubular bones and joints. Symptoms of this condition are low growth, deformities of the vertebral column (kyphosis) and chest, soreness and stiffness of large joints. Diagnosis of spondyloepiphyseal dysplasia is based on the…

Spinocerebellar Ataxia

Spinocerebellar ataxia is a group of genetically heterogeneous hereditary diseases of a neurological nature, which are manifested by various disorders of the cerebellum and sometimes the basal nuclei of the brain. Symptoms of this condition are: the development of ataxia and unstable gait, impaired coordination of movements and other neurological manifestations. The diagnosis of spinocerebellar…

Shwachman-Diamond Syndrome

Shwachman-Diamond syndrome is a genetic pathology manifested by secretory insufficiency of the pancreas, bone marrow disorders and serious hematological changes. The first symptoms (diarrhea, flatulence, decreased appetite, dystrophy, skeletal deformity, anemia, etc.) are recorded at 5-6 months during the introduction of complementary foods. The main diagnostic measures: biochemical and general analysis of blood and feces,…

Chediak-Higashi Syndrome

Chediak-Higashi syndrome is one of the forms of congenital immunodeficiency, which is characterized by a phagocytosis defect and oculocutaneous albinism. The disease has an autosomal recessive inheritance mechanism and occurs with various types of LYSR/CHS1 mutations. Clinically, the pathology is manifested by discoloration of the hair and iris of the eyes, recurrent bacterial and fungal…

Holt-Oram Syndrome

Holt-Oram syndrome is a rare hereditary pathology characterized by morphological abnormalities of the upper extremities, various congenital heart defects. It occurs due to a gene mutation TBX5, inherited by autosomal dominant type. To diagnose Holt-Oram syndrome, an X-ray examination of the hand, echocardiography and electrocardiography are prescribed, the presence of the mutation is confirmed by…

Freeman-Sheldon Syndrome

Freeman-Sheldon syndrome is a rare disease with different types of inheritance, which is characterized by damage to the musculoskeletal system. Pathological changes are caused by a mutation of MYH3 on the short arm of chromosome 17. The disease is manifested by multiple contractures of the joints, deformity of the facial skeleton, ulnar deviation of the…