Gaucher"s disease - перевод на Английский
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Gaucher"s disease - перевод на Английский

HUMAN DISEASE CHARACTERIZED BY DEFICIENCY OF THE ENZYME GLUCOCEREBROSIDASE WHICH RESULTS IN THE ACCUMULATION OF HARMFUL QUANTITIES OF THE GLYCOLIPID GLUCOCEREBROSIDE THROUGHOUT THE BODY
Gaucher disease; Gauchers disease; Gauchers Disease; Gaucher Disease; Gaucher disease type 1; Gaucher disease type 2; Gaucher disease type 3; Acid beta-glucosidase deficiency; Cerebroside Lipidosis syndrome; Acute cerebral Gaucher's disease; Anemia, splenic, familial; Gaucher's; Gaucher's Disease; Gaucher’s disease; Pseudo-Gaucher disease; Gaucher syndrome; Erlenmeyer flask deformity of the femur; N370S in the United States; Prevalence of N370S in the United States; Epidemiology of N370S in the United States; National Gaucher Foundation; National Gaucher Foundation (United States)

Gaucher's disease      
malattia di Gaucher, disturbo genetico caratterizzato dall"accumulo del lipide glucosilceramide soprattutto a carico del fegato, della milza e del midollo osseo (medic.)
organic disease         
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ABNORMAL CONDITION NEGATIVELY AFFECTING ORGANISMS
Diseases; Morbility; Morbidity; Illness; Ailment; Medical condition; Illnesses; Ill-health; Medical disorder; Human disease; Organic disease; Organic origin; Refractory disease; Organic basis; Organic symptom; Organic cause; Morbid; Human diseases; Malady; Medical illness; Physical ailment; Disorder (medicine); Ail (health); Ailments; Medical conditions; Diseased; Disorder (medical); Ails; Dis-ease; Organic disorder; General medical condition; Flare-up; Complex disorders; Late stage disease; Spectrum of clinical disease; Infirm; Infirmity; Maladies; Flareup; Physiological disorder; Physical illness; Head and brain malformations; Health problem; Sicken; Health problems; Pathosis; Morbidly; Ilness; General disorder; Acquired disorder; Physiological disease; Morbidities; Predisease; Disease state; Disease states
malattia organica
cardiovascular disease         
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  • Calcified heart of an older woman with cardiomegaly
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CLASS OF DISEASES THAT INVOLVE THE HEART OR BLOOD VESSELS
Heart disease; Heart condition; Circulatory disease; Heart Disease; Cardio-vascular disease; Heart diesase; Cardiovascular diseases; Heart Diseases; Heart diseases; Cardiovascular disorders; Obstructive arterial disease; Cardiac disease; Cardiac Disease; Diet and heart disease; Diet and Heart Disease; Heart Disease, History; Cardiovascular Disease; Heart Condition; Heart disease and diet; Inflammatory heart disease; Heart problems; Heart problem; Cardiovascular risk; Cardiopathy; Cardiovascular events; Rare heart disease; Cardiac disorder; Cardio vascular disorder; Cardiac condition; Left main disease; Cardiovascular health; Cardiovascular conditions; Disorders of the Circulatory System; Cardio-vascular diseases; Cardiovascular disorder; Phosphorus and non-atherosclerotic heart disease; Draft:Phosphorus and non-atherosclerotic heart disease; Cardiovascular Disease Risk Factors and Prevention; Heart ailment; Vascular death; Cardiovascular dysfunction; Risk factors for cardiovascular disease; Risk factors for heart disease; Prevention of heart disease; Causes of cardiovascular disease; Causes of heart disease; Cardiovascular event; Cardiovascular morbidity; Prevention of cardiovascular disease; Treatment of heart disease; Epidemiology of cardiovascular disease; Cardiac mortality; Cardiovascular abnormalities; Circulatory disturbance; Cardiovascular effects of air pollution; Morbus Cordis; Socioeconomic status and cardiovascular disease; Genetic risk factors for cardiovascular disease; Heart complication; Heart complications; Cardiac event; Cardiac events; Heart event; Heart events; Heart disorder; Cardiac disorders; Cardiac complications; Cardiac complication; Cardiovascular complication; Cardiovascular complications; Cardiovascular problem; Cardiovascular problems; Cardiovascular issue; Cardiovascular issues; Cardiovascular condition; Mental health and cardiovascular disease; Depression and cardiovascular disease; Sleep and cardiovascular disease; Air pollution and cardiovascular disease; Genetics of cardiovascular disease; Genetics of heart disease; Diet and cardiovascular disease; Sex differences in cardiovascular disease; Dietary risk factors for cardiovascular disease
malattia cardiovascolare

Определение

Bright's disease
·- An affection of the kidneys, usually inflammatory in character, and distinguished by the occurrence of albumin and renal casts in the urine. Several varieties of Bright's disease are now recognized, differing in the part of the kidney involved, and in the intensity and course of the morbid process.

Википедия

Gaucher's disease

Gaucher's disease or Gaucher disease () (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes, which is often a target for intracellular parasites). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow.

Manifestations may include enlarged spleen and liver, liver malfunction, skeletal disorders or bone lesions that may be painful, severe neurological complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelet count, and yellow fatty deposits on the white of the eye (sclera). Persons seriously affected may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy.

The disease is caused by a recessive mutation in the GBA gene located on chromosome 1 and affects both males and females. About one in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is one in 450.

Gaucher's disease is the most common of the lysosomal storage diseases. It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids.

The disease is named after the French physician Philippe Gaucher, who originally described it in 1882.