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syndrome Wardenburg’s syndrome is a group of hereditary multiple congenital malformations with a characteristic pigmentation disorder and deafness. Type I (*193500, 2q35, PAC3 gene defect, R). Clinically: partial skin albinism, early graying of the hair, telecanthus (optional), heterochromia of the irises, sensorineural hearing loss, broad bridge of the nose, cleft lip/palate, Hirschsprung disease, short nasal bones, relative […]

brownsecar syndrome Brown-Sequard syndrome is a symptom complex observed when half of the diameter of the spinal cord is damaged: central paralysis (or paresis) and loss of musculo-articular and vibration sensitivity are noted on the side of the lesion, loss of pain and temperature sensitivity on the opposite side. Etiology Injuries and penetrating injuries of the

Psychogenic pain syndrome Psychogenic pain syndrome is a pain syndrome caused by neurotic disorders; compensatory reaction of an accentuated personality in response to a lack of attention from others. Pain can be conversion (hysterical) in nature or included in the obsessive-phobic or hypochondriacal syndrome. At the same time, changes in the functional state of various organs and systems that

bartter syndrome Bartter’s syndrome is a hereditary disease (see also Appendix 2. Hereditary diseases: mapped phenotypes) with a pronounced decrease in BCC due to loss of electrolytes from the kidneys, associated with low blood pressure, hypokalemic alkalosis, hypercalciuria, and normal serum magnesium levels. The last two features distinguish patients with this syndrome from those with Gitelman’s syndrome,

Syndrome antiphospholipid Antiphospholipid syndrome (APS) is a symptom complex that occurs against the background of hyperproduction of AT to phospholipids (lupus anticoagulant, AT to cardiolipin), characterized by thrombosis of various localization. It develops in rheumatic diseases (most often – SLE). Frequency – 7% in the general population, 30-60% of patients with SLE. The predominant age is 20-40 years. The predominant

sleep apnea syndrome Sleep apnea syndrome can be caused by obstructive (obesity, small size of the oropharynx) or non-obstructive (CNS pathology) causes. Sleep apnea, usually mixed, combines obstructive and neurological disorders. Patients may have hundreds of such episodes while sleeping in a single night. Obstructive sleep apnea is one of the many sleep disorders. The frequency is 4-8%

nephrotic syndrome Nephrotic syndrome is a symptom complex associated with an increase in glomerular permeability, accompanied by proteinuria over 2 g / m2 / day, hypoalbuminemia (less than 30 g / l), edema and hyperlipidemia. The predominant age is 1.5-4 years. The predominant gender is male. Etiology. Primary kidney lesions Minimal change disease Focal Glomerulosclerosis Membranous glomerulonephritis Membranoproliferative glomerulonephritis

Chronic nephritic syndrome Chronic nephritic syndrome is a syndrome that accompanies a number of diseases of various etiologies, characterized by diffuse glomerular sclerosis leading to CRF, clinically manifested by proteinuria, cylindruria, hematuria and arterial hypertension. Etiology Focal and segmental sclerosis (28%) Membranoproliferative glomerulonephritis (25%) Glomerulonephritis with crescents (15%) Membranous glomerulonephritis (4%). Pathomorphology Increased extracellular material (mesangial matrix,

Syndrome nephritic rapidly progressive Rapidly progressive nephritic syndrome is characterized by focal and segmental necrosis with proliferation of epithelial cells of the renal glomeruli in the form of half moons, in the clinical picture – proteinuria, hematuria and erythrocyte casts, the development of renal failure over several weeks or months. Etiology infections Post-streptococcal glomerulonephritis Infective endocarditis

nelson syndrome Nelson’s syndrome is a condition characterized by chronic adrenal insufficiency, hyperpigmentation of the skin and mucous membranes, and the presence of a pituitary adenoma. Occurs in 5-10% of cases after bilateral total adrenalectomy in Itsenko-Cushing’s disease. Pathogenesis An increase in ACTH production due to a violation of feedback mechanisms is a key moment in pathogenesis. Effek-Sh