Von Hippel Lindau disease is an autosomal dominant gene pathology that causes the development of a number of polymorphic tumors in the body. Most often these are retinal angiomas, CNS hemangioblastomas, pheochromocytomas, neoplasms of the kidneys and pancreas. Sometimes a single tumor process acts as a manifestation of the disease. The diagnosis is verified after…
Hallervorden Spatz disease is a neurodegenerative hereditary pathology caused by the deposition of iron in the basal ganglia of the brain. It is manifested by Parkinsonism syndrome, intellectual and mental disorders, hyperkinesis, visual disorders. The main diagnostic value is the detection of the “tiger’s eye” pattern in the area of the pale globe during MRI…
Best disease is one of the forms of bilateral central (macular) retinal pigment abiotrophy, leading to macular photoreceptor dystrophy and significant visual impairment. It is characterized by an initially asymptomatic course, visual acuity decreases over time, and a central scotoma occurs. Diagnosis is made on the basis of examination of the fundus, electrooculography and fluorescence…
Byler’s disease is a rare hereditary disease characterized by impaired transport of bile acids from liver cells, which leads to the rapid development of cirrhosis. The main clinical manifestations include jaundice staining of the skin and mucous membranes, itching, enlargement of the liver and spleen. Urine gets a dark shade, feces – light. The diagnosis…
It is possible to save the lives of 10 to 80 thousand people with a very simple solution, scientists from Griffith University in Australia and Oxford University in the UK reported. According to their joint study published in the British Medical Journal Open, reducing salt intake is the best way to prevent high blood pressure…
Achondrogenesis is a group of hereditary diseases belonging to the class of severe skeletal dysplasia, often leading to antenatal death or death at an early age. The main manifestation of these pathologies is a sharp violation of the processes of ossification, which is externally manifested by shortening of the limbs, underdevelopment of the ribs, chest,…
Autoimmune lymphoproliferative syndrome is a group of genetically determined diseases that occur due to hereditary or somatic mutations in the genes responsible for various stages of FAS-induced apoptosis. Symptoms can be variable and most often include lymphadenopathy, splenomegaly and various autoimmune lesions of the blood system, liver, thyroid gland. Diagnosis of autoimmune lymphoproliferative syndrome is…
Atelosteogenesis is a group of genetic pathologies–chondrodysplasia, which often lead to death at an early age or at the stage of intrauterine development. The main manifestations of the diseases are hypoplasia of the femoral and humerus bones in their distal parts, shortening of the ribs and narrowing of the chest, dislocations of the joints and…
Arrhythmogenic right ventricular cardiomyopathy is a disease of presumably genetic nature characterized by structural changes in the right ventricle and the development of arrhythmia. The course options range from asymptomatic forms to forms with pronounced tachyarrhythmia, extrasystole, cardialgia and heart failure. Diagnosis is carried out using echocardiographic, electrocardiographic, magnetic resonance imaging, as well as myocardial…
Fanconi anemia is a genetic disease that is transmitted by an autosomal recessive type and is characterized by a violation of hematopoiesis, the formation of malignant neoplasms, malformations, fragility of chromosomes. It is manifested by frequent bleeding, bruising on the skin, lethargy, pallor, a tendency to infections. Diagnostics is carried out by laboratory methods, cytogenetic,…
