Sagliker syndrome (SS) seems to be related to chronic kidney disease (CKD), secondary hyperparathyroidism (SH) and uglifying face appearances. The etiology of SS is not known, and it is strongly thought that genetics may be the major factor in the etiology. The genetics importance of GNAS1 gene mutations on outcome in patients with SS is unclear, and no search has addressed GNAS1 mutations. Therefore, we conducted clinical and genetical studies including screening for mutations in the 13 exons of the GNAS1 gene in 23 subjects with SS. In 47.8% of the patients, 17 genetic abnormalities in GNAS1 were detected. Seven (58.3%) of 12 nucleotide alterations comprised novel missense mutations and three nonsense. Mismutations were in different manners. For 16 regions of the GNAS1 gene in which a missense and nonsense mutations, and heterozigot transversions (polymorphisms) were identified in 11 patients, and no mutated GNAS1 genomic in DNA of control subjects. There was nonsense mutations in 5 patients. Polymorphisms and other nonpathogenic mutations have been identified in 43.5% of the patients. There were also 6 heterozygous tranversion polymorphism in exons. Six were introngenic mutations. These results expand the spectrum of GNAS1 missense mutations associated with SS, and are consistent with an insufficiency of GNAS1 playing a role in the clinical phenotype of loss of function mutations and with a functional GNAS1 allele having a predominant role. At the same time, these findings may be helpful in conducting further molecular and biological studies on CKD, secondary hyperparathyroidism and uglifying face appearances.

Aim: to evaluate the association between survival and patient status at the start of dialysis. Methods: the analysis of survival data in St-Petersburg city RRT register among patients started dialysis in 2009-2015. Results: Among 2548 included patients 411 started RRT with PD (16.1%), 1134 (44.5%) started RRT urgently, 16.7% had diabetes mellitus. 5-year survival was 68.4%, in PD-starters it was higher (p<0,004). Estimated GFR did not differ between PD-starters and HD-starters in groups with scheduled (8.4±2.7 vs. 8.4±2.7) or urgent (4.5±2.4 vs. 4.4±2.4 ml/min) RRT start. Urgent start with PD but not with HD was associated with increased adjusted risk of death after 3 years of dialysis (calculated from 90-th day of dialysis). In adjusted Cox model for HD-starters eGFR (as continuous variable - per 1 ml/min) was associated with reduced death risk by 16% (OR 0.843; 95%CI 0.796÷0.892; p<0.001). The adjusted Cox model for quintiles of eGFR with borders 3.1-4.6-6.3-8.8 ml/min revealed increased risk of death only for eGFR<6.3 compared with upper quintile (>8.8), when urgent start was added as a variable - only for eGFR<4.6 ml/min. The risk was increased for baseline Hb<10 g/dl (OR 1.39; 95%CI 1.05÷1.84; p=0.02), hypoalbuminemia < 3.8 g/dl (OR 1.38; 1.13÷1.68; p=0.001), ferritin>500 μg/l (ОР 1.25; 1.00÷1.55; p=0.047) - as inflammation marker, hypercalcemia >2.5 mmol/l (OR 1.69; 1.00÷2.86; р=0.049), hyperphosphatemia >1.78 mmol/l (OR 1.63; 1.07÷2.48; p=0.022) or both (OR 3.98; 1.67÷9.48; p=0.002). Conclusion: the dialysis delaying up to eGFR 8.8-6.3 ml/min isn`t associated with increased risk of death; while taking in account urgent/scheduled start eGFR 4.6÷6.3 ml/min isn`t associated with increased risk compared higher eGFR levels.

Arterial hypertension (AH) is one of the most common complications which remains or redevelops after hemolytic uremic syndrome (HUS). AH that diagnosed in childhood represents a high risk of developing cardiovascular and renal disease in adult age. Aim: to determine the incidence and characteristics of AH in children after HUS; to assess circadian rhythm, blood pressure (BP) variability and the relationship between BP levels and other risk factors of unfavourable outcome of HUS. Materials and methods: the study included 59 children, aged 7 years (5.9; 8.3) and fol-low-up of HUS 5.12±2.07 years. All patients underwent daily blood pressure monitoring (ABPM), anthropometric measurements were performed, losses of protein and albumin in the urine were determined daily, glomerular filtration rate was calculated. Results: According to ABPM the prevalence of different forms of arterial hypertension in children after HUS was established: prehypertension was found in 10.2% of patients, white coat and masked AH were found in 13.6% and in 6.8% of patients. AH was detected more frequently in those patients who receiving dialysis in the acute period of HUS than without it (29.6% vs. 20%). High blood pressure was observed mainly at night time. In some patients obesity worsened systolic hypertension, which persisted throughout the day. Microalbuminuria was found in 50% of children with AH closely correlated with the severity of renal damage in the acute period of HUS (rs=0.4; p<0.05). Conclusions: Considering that AH in children after HUS is the predominantly nocturnal, 24h monitoring of blood pressure play a key role in its diagnosis. The detection of pathological microalbuminuria in this category of patients is the indication for ABPM, even at normal office BP.

Objective: the aim of the work was to study the status of vascular-platelet hemostasis and blood coagulation in dialysis patients with uremic hyperparathyroidism. Material and methods: the hemostasis status was estimated in 76 dialysis patients. The following parameters were accessed: the quantity of blood thrombocytes, thrombocyte aggregation with adrenaline and ADP, concentration and activity of the Villebrand factor, blood coagulation characteristics, concentrations of physiological anticoagulants and fibrinolysis level. Results: the reduction of thrombocytes aggregation with ADP data was pronounced. Strong reciprocal correlation was found between the levels of parathyroid hormone and of Villebrand factor in patients with secondary hyperparathyroidism undergoing dialysis therapy for more than 36 months: r=-0.7, р=0.04. In dialysis patients with uremic hyperparathyroidism the level of D-dimer was lower than in patients with normal parathyroid hormone. Secondary hyperparathyroidism must be associated with reduced role of vascular-platelet of hemostasis in dialysis patients with longer dialysis therapy and with hypocoagulation too.

A variety of experimental animal models which mimic renal failure of different origin have been used to study the pathogenic mechanisms of acute kidney injury (AKI) and to test nephroprotective strategies. Detailed description of existing animal models of AKI helps to understand the specific methodology of each experiment and to interpret the obtained results correctly. Glycerol-induced kidney injury in animals closely mimics the rhabdomyolysis. Use of such drugs as gentamicin, cisplatin, ifosfamide, diclofenac stimulates AKI and mimics renal failure due to clinical administration of respective drugs. Animal model of radiocontrast-induced AKI mimics renal failure caused by radiocontrast media during angiography. Experimental model of uranium, potassium dichromate-induced AKI simulates the occupational hazard. Using of S-(1,2-dichlorovinyl)-L-cysteine, ferric nitriloacetate-induced AKI imitates contaminated water-induced renal dysfunction. Animal model of sepsis-induced AKI mimics the infection-induced renal failure. A variety of experimental models ischemia-reperfusion (I/R)-induced AKI simulate the hemodynamic changes specific to decreasing renal blood flow. A detailed model of I/R AKI by bilateral clamping of renal pedicles in rats with specification of technical issues, different variants of experiment, their peculiarities and difficulties is also described.

The aim of this study was to evaluate the influence of vascular access grafts surveillance using ultrasound Doppler sonography on surgical treatment outcomes in thrombosed grafts. 32 patients were included. 23 (72%) were females and 9 (28%) were males. Median age was 54.9±11.2 years. 17 (54%) patients had an arm graft, and 15 (46%) had a thigh graft. Patients were divided into 2 groups. 1-st group (n=16) had an episode of thrombosis without any significant ultrasound Doppler sonography (USDS) lesions or stenosis less than 50%. 2-nd group (n=16) had an episode of thrombosis with hemodynamic significant lesion on USDS (stenosis more than 50%). There were 44 surgical thrombectomy among 32 patients. In 15 (36%) cases reconstructive surgery were made for graft salvage. Mean primary patency was 35.9±26.1 months. Mean secondary patency was 28.6±21.9 months (1-st group), 29.9±32.8 months (2-nd group), (p>0.05). Mean cumulative patency was 74.6±40.0 months (1-st group), 557±41.5 months (2-nd group). (p>0.05). Different kinds of USDS data were analyzed, such as access blood flow (Qa, ml/min). Mean Qa was 1443.2±369.8 ml/min (1-st group), 784.5±224.3 ml/min (2-nd group), (p<0,05). Vascular access monitoring using USDG can optimize surgical treatment and significantly improve graft patency.

The aim of the study. To evaluate the relationship between colonization of the gastric mucosa with Helicobacter pylori and protein-energy deficiency (PED) in patients receiving chronic hemodialysis. Patients and methods. 102 patients with end-stage renal disease receiving chronic hemodialysis, among which were 52 men and 50 women aged 49±7.7 years. All patients underwent endoscopy with biopsy of antrum and body of the stomach and the determination of infection with Helicobacter pylori. The nutritional status and composition of the patient's body components were estimated using the method of comprehensive nutritional evaluation, caliperometry, bioimpedance analysis body composition. Determining the level of acyl-ghrelin serum was performed using enzyme-linked immunosorbent assay (ELISA) using commercial kits (Spi-bio, Montignyle Bretonneux, France). Results. In the course of the study the deterioration of some key indicators of nutritional status based on the presence of Helicobacter pylori (HP) was demonstrated. The level of acyl-ghrelin serum in patients with HP colonization was reduced. After the 14 days of eradication therapy of HP we saw improvements in key nutrition indicators and increase the concentration of acyl-ghrelin. Conclusions. Eradication therapy Helicobacter pylori can be considered as an additional method of PEW correction in Hp-positive hemodialysis patients.

The article presents a clinical case of amyloidosis cardiopulmonary lesions in a patient with previously established diagnosis of Familial Mediterranean Fever (FMF). In this patient FMF was complicated by renal amyloidosis and end-stage renal disease. Key points of diagnostics were high pulmonary hypertension, echocardiographic feature of restrictive cardiomyopathy and radiological signs of disseminated parenchymal process. The lung damage was interpreted as parenchymal nodular pulmonary amyloidosis after tuberculosis, sarcoidosis, systemic autoimmune diseases and oncology were excluded. The treatment by colchicine was started immediately. Significant positive changes were observed in three months. The signs of disseminated parenchymal process and pulmonary hypertension were completely resolved. The diastolic function of left ventricle also significantly improved. The described case demonstrates the clinical need to examine extrarenal localizations of amyloidosis in patients with FMF and emphasizes the importance of treatment by colchicine even at a late stages of disease.

Despite the fact that ANCA-associated vasculitis are pronounced inflammatory diseases, there are only few reports of cases of diagnosis of AA-amyloidosis in microscopic polyangiitis and the eosinophilic granulomatosis with polyangiitis (Churg-Strauss) in foreign literature. In this article we for the first time present evidence for the development of AA-amyloidosis in an elderly man, suffering from granulomatosis with polyangiitis (Wegener). Renal disease was characterized by the development of crescent pauci-immune glomerulonephritis with rapidly progressive course. After a course of induction therapy complete clinical and immunological remission was achieved, which persisted on the background of maintenance therapy. Rare manifestations of a weak activity of vasculitis almost did not affect the renal function. Death has developed as a result of multiple organ failure on the background of the septic complications of acute pneumonia. Clinical manifestations of systemic amyloidosis were absent. AA-amyloidosis was diagnosed by post-mortem morphological study and with high probability was a result of the underlying disease.