Search

Gaucher disease is the most common form of hereditary enzymopathies combined into a group of lysosomal storage diseases. The basis for the disease is a hereditary deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the catabolism of lipids, which results in the accumulation of nonutilized cellular metabolism products in the macrophage lysosomes. The main clinical manifestations of type 1 Gaucher disease are cytopenia, hepatomegaly, and splenomegaly, and bone lesion. One of the atypical clinical manifestations of Gaucher disease is damage to the lungs with the development of pulmonary hypertension, which is usually considered within the underlying disease - the development of pneumosclerosis due to macrophage dysfunction. The paper describes a case of progressive pulmonary hypertension in a patient with type 1 Gaucher disease.Болезнь Гоше - наиболее частая форма наследственных ферментопатий, объединенных в группу лизосомных болезней накопления. В основе заболевания лежит наследственный дефицит активности кислой β-глюкозидазы - лизосомного фермента, участвующего в катаболизме липидов, что приводит к накоплению неутилизированных продуктов клеточного метаболизма в лизосомах макрофагов. Основные клинические проявления болезни Гоше I типа: цитопения, гепато- и спленомегалия, поражение костей. Одним из нетипичных клинических проявлений болезни Гоше служит поражение легких с развитием легочной гипертензии, обычно рассматриваемое в рамках основного заболевания - развития пневмосклероза вследствие нарушения функции макрофагов. Приведено описание случая прогрессирующей легочной гипертензии у пациента с болезнью Гоше I типа.

To investigate whether plasma replacement (PR) can raise efficiency of drug therapy of ischemic heart disease (IHD).A 30-60% replacement of circulating plasma for salt or dextran using PF-05 unit has been performed in 324 patients 35-79 years of age with recurrent myocardial infarction and angina pectoris. A total of 520 PR procedures were performed. Biochemical, acid-base, coagulative, viscosity, microcirculatory blood parameters were taken, ECG and stress tests were made.PR resulted in a significant reduction in packed cell volume, total protein, fibrinogen, low density lipoproteins, total cholesterol and led to diminution of blood viscosity, acceleration of capillary blood flow, improvement of O2/CO2. Lowering of fibrinogen levels, number of platelets and their aggregation, enhancement of fibrinolytic blood activity created conditions for moderate controlled hypocoagulation. As shown by stress tests, two weeks after PR 60% of anginal patients of functional class IV can be transferred to class III.Because PR is beneficial by many parameters, it lessens the requirement in pharmacological support of patients with complicated IHD.

Plasmapheresis on a continuous blood flow fractionator to remove 1,200-2,000 ml plasma and substitute for the same values of dextran solutions was employed in the multi-modality treatment of 25 patients with Functional Classes II-IV exertional angina and myocardial infarction. Plasma and thrombocyte hemostatic parameters were examined just before and 24 and 48 hours after plasmapheresis. The analysis of the baseline data revealed that hemostatic changes were directly related to the severity of a disease in the patients and there was a correlation between the increased platelet aggregability and the elevated levels of fibrin-monomeric complexes. Plasmapheresis along with substitution of removed plasma for dextran solutions was accompanied by a profound hypocoagulative effect, as evidenced by plasma and thrombocyte hemostatic parameters. In addition, in patients with baseline high values of platelet aggregability plasmapheresis resulted in its decrease, whereas in those with baseline low values, it led to its increase.

The bicycle ergometric test was used to examine exercise tolerance in 73 patients with coronary heart disease following a single remedial plasmapheresis session, which removed an average of 1562.2 ml plasma. A rapid increase in exercise tolerance was significantly revealed in patients with Functional Class IV exertional angina.