fanconi syndrome

Fanconi Syndrome

Fanconi syndrome is a hereditary kidney disease characterized by damage to the epithelium of the distal tubules and the nephron loop, which leads to impaired excretory functions and numerous secondary pathologies. Symptoms of this condition are polyuria of a hypotonic nature, hypochromic anemia, skeletal lesions, azotemia develops at the terminal stages. Diagnosis includes ultrasound examination of…

Nemaline Myopathy

Nemaline Myopathy

Nemaline myopathy is a group of genetically heterogeneous hereditary myopathies, the common pathohistological manifestation of which is the formation of filamentous structures in the muscle tissue, which is reflected in the name of the pathology (from the Greek Nema – thread). Symptoms of various forms of the condition can vary significantly in their severity –…

neurofibromatosis

Neurofibromatosis

Neurofibromatosis are hereditary diseases characterized by the formation of benign tumors in the skin, soft tissues, nervous system and internal organs. There are 6 types of neurofibromatosis, types I and II are clinically significant. Common symptoms include neurofibromas on the skin, tumors of the spinal roots, auditory and optic nerves, pigmented spots, bone deformities. Diagnosis…

hereditary angioedema

Hereditary Angioedema

Hereditary angioedema is a genetic disease in which there is a deficiency of the inhibitor of the C1 component of the complement. Symptoms are recurrent swelling of the skin, mucous membranes and abdominal organs, which may be accompanied by suffocation (with laryngeal edema), vomiting and abdominal pain (with abdominal lesions). Diagnosis is made on the…

hereditary amyloidosis

Hereditary Amyloidosis

Hereditary amyloidosis is a group of diseases characterized by the accumulation of insoluble protein complexes (amyloid) in various tissues – mainly in the nervous and digestive systems, kidneys and myocardium. Symptoms are neurological disorders, cardiac pathologies (cardiomyopathy), nephropathy and dyspeptic disorders. In various forms of hereditary amyloidosis, the defeat of a certain system prevails. The…

familial erythrocytosis

Familial Erythrocytosis

Familial erythrocytosis is a set of genetic conditions characterized by an increased content of hemoglobin and erythrocytes in the blood, which leads to a violation of its rheological properties. Symptoms of pathology, depending on its severity, may include headaches, cardiac arrhythmias, hemorrhages, thrombotic disorders, cyanosis or, conversely, a crimson tint of the skin and mucous…