Hypoplastic kidney glomerulocytosis is a genetic disease manifested by underdevelopment of the urinary system in combination with damage to the liver, genitals and pancreas. It is accompanied by polycystic kidney disease, proteinuria, diabetes mellitus and malformations of other organs. The diagnosis of the disease is based on the data of ultrasound examination of the kidneys…
Glycogenoses are hereditary diseases based on a genetic defect in the production of enzymes involved in carbohydrate metabolism. A characteristic common feature is excessive deposition of glycogen in myocytes, hepatocytes and other cells of the body. Glycogenoses are manifested by symptoms of hypoglycemia, hepatomegaly, muscle weakness, hepatic, cardiac, respiratory and renal insufficiency. Diagnostics includes biochemical…
Histidinemia is a violation of amino acid metabolism (primary aminoacidopathy), in which an excessive amount of histidine accumulates in the blood. The disease is caused by a defect in the enzyme histidase, has an autosomal recessive type of inheritance. The disease manifests itself as a convulsive syndrome, impaired speech and intellectual development. Patients have a…
Hypochondroplasia is a hereditary disease belonging to the group of chondrodysplasia, the cause of which is a violation of the formation of cartilage and some types of bones, which leads to dwarfism. Symptoms of this pathology are shortened limbs and fingers, enlarged relative sizes of hands and feet, slight restriction of movements in the elbow…
Hypoplastic kidney dysplasia is a genetically and phenotypically heterogeneous group of congenital conditions that are united by underdevelopment of the urinary system due to genetic or teratogenic factors. The symptoms of this condition are quite diverse and depend on the degree of dysplasia – usually there is a lag in growth, impaired kidney function, sometimes…
Hypokalemic periodic paralysis is a group of genetically determined myoplegias characterized by paroxysmal muscle disorders accompanied by a decrease in potassium levels. Their symptoms are sudden attacks of muscle weakness up to almost complete paralysis, mainly the musculature of the extremities is affected, sometimes with the involvement of the respiratory muscles, which can pose a…
Scientists from the Australian University of Queensland have proved that more than 40% of pregnant women who sought help from counseling services were subjected to violence. And if women had barriers to abortions, this increased the risk of self-harm or self-harm. Even in Australia, there are still serious obstacles to abortion, despite the fact that…
Geleophysic dysplasia is a hereditary disease caused by a violation of cellular growth and development, as well as the functioning of some components of connective tissues. The symptoms of the disease are the characteristic appearance of the face (“happy”), low height, shortened limbs, hypertrophy of muscles, difficulty in movement in the joints. Diagnosis of heliophysical…
Congenital familial osteopetrosis is a hereditary disease with different types of inheritance and clinical course, which is characterized by a violation of the processes of ossification of bones with their densification and a number of concomitant disorders. Symptoms of this condition are fragility of bone tissue (mild development of traumatic and pathological fractures), manifestations of…
Congenital sensory neuropathy with anhidrosis is an extremely rare hereditary disease characterized by disorders of peripheral innervation and sweating processes. One of the main symptoms of this condition is the complete absence of nociceptive sensitivity, increased body temperature due to impaired thermoregulation, attacks of sudden shortness of breath. Diagnosis of the disease is based on…