Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Deficient activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide within lysosomes, believed to trigger a cascade of cellular events. Demonstration of marked α-galactosidase A deficiency is the definitive method for the diagnosis of hemizygous males. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that molecular testing (genotyping) of females is mandatory. In childhood, other possible causes of pain such as rheumatoid arthritis and ‘growing pains’ must be ruled out. In adulthood, multiple sclerosis is sometimes considered. Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, only considered in male fetuses. Pre-implantation diagnosis is possible. The existence of atypical variants and the availability of a specific therapy singularly complicate genetic counseling. A disease-specific therapeutic option – enzyme replacement therapy using recombinant human α-galactosidase A – has been recently introduced and its long term outcome is currently still being investigated. Conventional management consists of pain relief with analgesic drugs, nephroprotection (angiotensin converting enzyme inhibitors and angiotensin receptors blockers) and antiarrhythmic agents, whereas dialysis or renal transplantation are available for patients experiencing end-stage renal failure. With age, progressive damage to vital organ systems develops and at some point, organs may start to fail in functioning. End-stage renal disease and life-threatening cardiovascular or cerebrovascular complications limit life-expectancy of untreated males and females with reductions of 20 and 10 years, respectively, as compared to the general population. While there is increasing evidence that long-term enzyme therapy can halt disease progression, the importance of adjunctive therapies should be emphasized and the possibility of developing an oral therapy drives research forward into active site specific chaperones.

Review provides data about endoplasmatic reticulum stress (ER-stress). Data about biological role of ER-stress, its causes, intracellular events which provide adaptive and proapoptotic biochemical cascades underlying UPR, ER-stress reaction and identifying fortune of cell which has been exposed to influence of this stress is given. Physiological and pathophysiological aspects of ER-stress are discussed, its connection with hypoxia, inflammation, oxidative stress. ER-stress role in pathogenesis of some diseases is observed.

AIM OF RESEARCH was specification of correlation between gastric mucosa functional status and Helicobacter Pylori persistance intensity with general nutritient deficiency indexes in patients receiving treatment by chronic hemodialysis. PATIENTS AND METHODS. 102 patients with chronic kidney disease of V stage receiving treatment by hemodialysis (HD), including 52 men and 50 women at age of 49 ± 7,7, were examined. All patients were performed fiberoptic gastroduodenoscopy (FGDS) with byopsy from antral department and gastric corpus. Material was used for determination of Helicobacter Pylori contamination, study of gastric mucosa cytologic and histologic pattern. Nutritional state and patients’blend composition were estimated with complex nutritional method, caliperometry, bioimpedancemetry. RESULTS. Resulting data show nutritional state general laboratory-anthropometric markers decrease depending on gastric mucosa atrophic changes intensity and Helicobacter Pylori population. CONCLUSION. These correlations detection can indicate the significant role of gastric mucosa and Helicobacter Pylori infection in development of nutritient deficiency in patients with HD.

AIM OF RESEARCH. Determination of relation between vitamin D (VD) state and cardiovascular system pathology at patietns with different stages of chronic kidney disease (CKD). PATIENTS AND METHODS. 102 patients with CKD of 1-4 stages were examined, m/f – 49/53, mean age 60,6±12,6 years, commonly with diabetic nephropathy (91,2%) and 79 patients with CKD of 5D stage, receiving chronic bicarbonate hemodialysis average for 70,0±80,0 months, m/f – 36/43, 45,5% - with chronic glomerulonephritis. Patients were performed echocardiography, Carotid intima-media thickness test (CIMT) and ECG and arterial blood pressure 24-hour monitoring. Except usual clinical and biochemical factors 25(OH)D and 1,25(OH)2D were determined by immunoenzyme method. RESULTS. At patients with CKD of 1-4 stages deficiency of 25(OH)D (<30 nM/l) were diagnosed in 14,9%, insufficiency (30-75 nM/l) – in 55,4% and optimal values (>75 nM/l) – in 29,7%. At patients with CKD of 5D stage – insufficiency was determined in 49,4%, deficiency – in 50,6%. In group of patients with CKD of 1-4 stage 1,25(OH)2D deficiency was determined in 63,8 cases (<53 nM/l), in group of patients with CKD of 5D stage – in all patients. At patients with CKD of 1-4 stage low values of 1,25(OH)2D combined with higher arterial blood pressure (p=0,01), more frequent myocardial ischemia episodes according to ECG monitoring data (p=0,027). Lower values of 1,25(OH)2D were observed in patients with CKD of 1-4 stages at myocardium hypertrophy (p=0,034), cardiac valve calcinosis (p=0,042). Lower values of 25(OH)D blood serum were associated with clinical significant of heart failure (p=0,004), cardiac valve calcinosis (p=0,021), with more CIMT (p=0,005), with more frequent supraventricular extrasystole (p=0,016). At patients with CKD of 5D stage at lower level of 25(OH)D more frequent supraventriclular extrasystole was observed (RS=-0,33; p=0,039). CONCLUSION. At patients with CKD insufficiency and deficiency of 25(OH)D and 1,25(OH)2D is frequent, especially at CKD of 5D stage. Lower values of 25(OH)D and 1,25(OH)2D are associated with more significant AH, myocardium hypertrophy, vascular sclerosis, cardiac valve calcinosis, supraventricular extrasystole, heart failure.

THE AIM OF THE STUDY – to analyse prevalence of a chronic kidney disease (CKD) in Yekaterinburg. PATIENTS AND METHODS. Data for 2006–2010 of the register of the Center of kidneys disease and dialysis of Yekaterinburg clinical hospital №40 are used. RESULTS. As a whole, at all stages of a chronic kidney disease the structure of nosological forms at patients is almost identical. Infections of urinary tract, chronic glomerulonephritis, diabetic and hypertensive nephrosckerosis more often meet. In 5 years the progressing gain of patients is observed: in 34 and 30 times at CKD 2 and 3 of stages, in 5,2 and 5 times at CKD 4 and 5 of stages respectively. Among nosological forms at patients in a preddialysis stage the number of glomerulonephritis and diabetic nephropathy becomes more – 21,4 % and 14,3 % respectively, however infections of urinary tract – remains the leading reason of CKD in all stages. CONCLUSION. The analysis of the register allows to predict necessary quantity of dialysis places and to carry out a current situation appraisal in the concrete region in comparison with country and world indicators.

AIM OF RESEARCH: studying of respiratory system indicators at rest. PATIENTS AND METHODS. Under investigation there were 148 hemodialysis patients without clinical manifestations of pathology of respiratory system. Spiroergometry and echocardiography were used. RESULTS. At all patients in rest pulmonary volumes were normal. Diffusing lung capacity decrease (61,6±1,3 %) and alveolar ventilation increase (6,21±1,39 l/min) was noted. Ventilation equivalent increase (51,9±3,1) and respiratory cycle oxygen effect decrease (16,9±0,9 ml/dyh) indicated significant metabolic cost of each respiratory cycle providing. Actual ventilation-perfusion coefficient increase (1,95±0,62) was noted. CONCLUSION. Work of respiratory muscles in rest at patients with CKD 5 stage receiving hemodialysis treatment is carried out inefficiently. Its testing and carrying out of regular exercise therapy including elements of respiratory gymnastics is necessary.

THE AIM OF RESEARCH: to compare an ultrafiltration volume adequacy estimation by clinical method and bioimpedance method and to define its influence on arterial pressure dynamics during hemodialysis (HD) session and myocardium remodelling indicators. PATIENTS AND METHODS. Examined 122 patients with CKD V receiving treatment by program HD (74 men and 48 women). Patients were divided on 3 groups: 1 group – 27 patients with the hypohydration, 2 group – 46 patients with normohydration, 3 group – 49 patients with hyperhydration. For central haemodynamics characteristics estimation echocardiographic research on the device Vivid 7Pro was carried out. As referential clinical method of ultrafiltration volume (UV) determination was used twofrequency bioimpedance with rheograph Diamant-R. Arterial pressure monitoring was carried out by bedside Draeger Infinity Vista XL monitor: 30 minutes before HD session, further each 30 minutes, and also 30 minutes after HD. RESULTS. In hypohydrated group clinically calculated UV was overestimated, therefore extracellular water volume deficiency after HD increased to 1,682±0,079 l. In normohydrated group clinically calculated UV was adequate. In group of the hyperhydrated patients clinically calculated UV was underestimated, therefore after HD excess of liquid increased to 1,176±0,186 l. Systolic arterial pressure dynamics on HD in all groups was similar. At echocardiography most expressed hypertrophy of the left ventricle was revealed both in group of hyperhydrated and in group of hypohydrated patients. CONCLUSION. Adequate laboratory evaluation of ultrafiltration necessary volume can slow down development of left ventricle hypertrophy in HD patients.

AIM OF RESEARCH. Evaluation of efficacy and safety of urinary bladder leukoplakia laser coagulation by diode laser. PATIENTS AND METHODS. 137 female patients with urinary bladder leukoplakia were observed. They were performed cystoscopy, biopsy of modified mucous membrane area and laser coagulation of urinary bladder modified mucous membrane by diode laser with wavelength 810 mkm. In 103 patients modified mucous membrane area located in vesical triangle, in 10 patients mucous membrane modifying was under right ureteral orifice, in 8 – under left ureter orifice, 16 women had combined injury of bladder neck and posterior bladder wall. RESULTS. According to histological examination data following diagnosis were confirmed: at 121 patients (88%) – urinary bladder leukoplakia, at 16 patients (12%) – chronic cystitis. Several days after laser coagulation of urinary bladder modified mucous membrane all patients noted disappiarance of disuria, decrease of uriesthesia and its urgency. CONCLUSION. Advantages of diode laser usage are: significant reduction of necrotic zone, required effect may be reached at minor capacity measures, lack of hemorrhage, recovery without coarse cicatrix, slight tenderness. Laser radiation wavelength 0,81±0,01 mkm have optimal combination of features necessary for surgical treatment on soft tissues in water.

AIM OF RESEARCH. Pathogenic prostatitis model development based on inflammation initial phase induction – alteration (injury) of tissues and cells with secretion of mediators by pathological prostate venous hyperemia. MATERIALS AND METHODS. Venous flow caused by one dose delivery of 1 ml cocktail of turpentine oil (metaxylene or orthoxylene) and 10% Dimexidum solution in the ratio of 1:4 per rectum in rats via special atraumatic semihard catheter of 25 mm length (distance between anus and prostate at rats). Research was carried out in 2 sets of tests on 98 white outbread rats males with weight 180±30 g. First set (46 rats) is dedicated to acute orostatitis, second (52 rats) – to chronic prostatitis. In both sets rats of 1 group were intact. To rats of 2-nd and 3-rd groups 0.25 ml Dimexidum or 0.25 ml turpentine were infused per rectum. In the same way in both sets 1 ml of cocktail of Dimexidum and turpentine was infused to rats of 4 group per rectum. RESULTS. Results were estimated after 10 days (in first set) and 35 days (in second set). Rats were taken out of test with guillotine. Microscopic research revealed presence of strongly marked acute (in 1-st set) and chronic (in 2-nd set) inflammation in prostate at rats of test groups. Thus specific changes of epithelium and stroma were associated with significant changes of venous bed, including venules microthrombosis. More than in 57% of cases chronic inflammation was associated with chronic gonecystitis and almost in 30% of cases also developed chronic proctitis. CONCLUSION. The study confirms leading role of pathological venous hyperemia in pathogenesis both acute and chronic prostatitis. Prostatitis caused in this way is a typical example of nonspecific inflammatory response. Development of prostatitis is associated with gonecystitis and can complicate with associated chronic proctitis. Results of research imphasize the need of pathogenetic action medicines in complex treatment of both acute and chronic prostatitis.

Gout is a systemic disease at which monosodium urate cristals deposit in different organs and tissues and in patients with hyperuricemia develops inflammation caused by environmental and/or genetic factors. Nowadays a lot of epidemiological data about worldwide hyperuricemia increasing is accumulated. It is considered, that generally men suffer from gout, but today equal morbidity rate occurs in both men and women. Last researches showed increasing growing prevalence of gout especially in geriatric patients.

Clinical case of C1Q – nephropathy.