Gaucher’s Disease (the Modern View on the Problem)
Journal Title: Гастроентерологія - Year 2015, Vol 3, Issue 57
Abstract
The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides. Decrease glucocerebrosidase results in the sphingolipids accumulation in the reticuloendothelial system and the health cells are substituted by defective ones. We describe the clinical manifestations of the three forms of the disease, its diagnosis algorithms and advanced specific treatment.
Authors and Affiliations
V. B. Yagmur
Keywords
Related Articles
- EP ID EP214483
- DOI -
- Views 71
- Downloads 0
Bacterial overgrowth syndrome in patients with chronic diffuse liver diseases depending on the etiology and morphological features
Background. Previous studies have shown an increased risk of liver disease in intestinal dysbiosis. Damage to the liver in itself can be the cause of the bacterial overgrowth syndrome. It has been proven that bacterial o...
Functional Dyspepsia in Adults: Diagnosis and Treatment
The objective of the work was to determine the dynamics of clinical symptoms of functional dyspepsia in adults under the influence of treatment using M-cholinolytic (scopolamine butylbromide). We examined 45 patients wit...
Clinical forms of lactase deficiency in children
Background. Lactase deficiency (LD) is the most common pathology of small intestine characterized by the development of maldigestion and malabsorbtion syndromes associated with the absence or lack of the enzyme lactase a...
Manometry for studying motor functioning of upper digestive tract
Impaired motility of esophagus, stomach, duodenum can be a key pathogenetic factor for development of most common diseases of digestive tract. Motility observation is of great importance for the assessment of digestive t...
Age Features of Structural and Hemodynamic Parameters of Great Vessels of the Neck in Non-Alcoholic Fatty Liver Disease and Overweight
The investigations involved 290 patients (85 males and 205 females). The data of patients with non-alcoholic fatty liver disease (NAFLD) (steatosis), combined with overweight, and the data of control group patients with...