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Mikołaj Dopierała, Krzysztof Schwermer, Krzysztof Hoppe, Małgorzata Kupczyk, Krzysztof Pawlaczyk Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, Poznan, PolandCorrespondence: Krzysztof Pawlaczyk, Email kpawlac@ump.edu.plIntroduction: Chronic kidney disease is a widespread medical problem that leads to higher morbidity, mortality, and a decrease in the overall well-being of the general population. This is especially expressed in patients with end-stage renal disease (ESRD) undergoing maintenance haemodialysis. Several variables could be used to evaluate those patients’ well-being and mortality risk. One of them is the presence of residual urine output.Materials and Methods: The study was conducted on 485 patients treated with maintenance haemodialysis. After enrollment in the study, which consisted of medical history, physical examination, hydration assessment, and blood sampling, each patient was followed up for 24 months. We used residual urine output (RUO) as a measure of residual renal function (RRF). The entire cohort was divided into 4 subgroups based on the daily urinary output ( 100mL to 500mL to 1000mL).Results: The data show that the mortality rate was significantly higher in groups with lower RUO, which was caused mainly by cardiovascular events. Also, patients with higher RUO achieved better sodium, potassium, calcium, and phosphate balance. They were also less prone to overhydration and had a better nutritional status. Preserved RRF also had a positive impact on markers of cardiovascular damage, such as NT-proBNP as well as TnT.Conclusion: In conclusion, preserving residual urine output in ESRD patients undergoing maintenance haemodialysis is invaluable in reducing their morbidity and mortality rates and enhancing other favourable parameters of those patients.Keywords: end stage renal disease, haemodialysis, residual urine output, cardiovascular risk, mortality

Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), which are characterised by insufficient activity of enzymes responsible for the intra-lysosomal breakdown of various substrates. The result is an uncontrolled accumulation of by-products of cellular metabolism. Lysosomal storage diseases are inherited diseases, transmitted mainly in an autosomal recessive fashion. In the absence of a positive family history, an early diagnosis can often be missed. In addition, the age of clinical manifestation can range from infancy to adulthood - a distinction is made between severe "classic" variants of the disorders, presenting in childhood, and forms with late onset. Some of the conditions in this group may not show typical signs of tissue storage, such as liver and spleen enlargement, especially in subtypes associated with neurodegenerative changes. The aim of the Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease is to summarise the current knowledge on FD, present advances in diagnosis and therapy and disseminate known diagnostic and therapeutic algorithms for this group of patients.

IgA vasculitis (IgAV) is a pediatric disease with skin and systemic manifestations. Here, we conducted genome, transcriptome, and proteome-wide association studies in 2,170 IgAV cases and 5,928 controls, generated IgAV-specific maps of gene expression and splicing from blood of 255 pediatric cases, and reconstructed myeloid-specific regulatory networks to define disease master regulators modulated by the newly identified disease driver genes. We observed significant association at the HLA - DRB1 (OR=1.55, P=1.1×10 -25 ) and fine-mapped specific amino-acid risk substitutions in DRβ1. We discovered two novel non-HLA loci: FCAR (OR=1.51, P=1.0×10 -20 ) encoding a myeloid IgA receptor FcαR, and INPP5D (OR=1.34, P=2.2×10 -9 ) encoding a known inhibitor of FcαR signaling. The FCAR risk locus co-localized with a cis-eQTL increasing FCAR expression; the risk alleles disrupted a PRDM1 binding motif within a myeloid enhancer of FCAR . Another risk locus was associated with a higher genetically predicted levels of plasma IL6R. The IL6R risk haplotype carried a missense variant contributing to accelerated cleavage of IL6R into a soluble form. Using systems biology approaches, we prioritized IgAV master regulators co-modulated by FCAR , INPP5D and IL6R in myeloid cells. We additionally identified 21 shared loci in a cross-phenotype analysis of IgAV with IgA nephropathy, including novel loci PAID4, WLS , and ANKRD55 .

Background: We aimed to develop a tool for predicting HNF1B mutations in children with congenital abnormalities of the kidneys and urinary tract (CAKUT)., Methods: The clinical and laboratory data from 234 children and young adults with known HNF1B mutation status were collected and analyzed retrospectively. All subjects were randomly divided into a training (70%) and a validation set (30%). A random forest model was constructed to predict HNF1B mutations. The recursive feature elimination algorithm was used for feature selection for the model, and receiver operating characteristic curve statistics was used to verify its predictive effect., Results: A total of 213 patients were analyzed, including HNF1B-positive (mut + , n = 109) and HNF1B-negative (mut - , n = 104) subjects. The majority of patients had mild chronic kidney disease. Kidney phenotype was similar between groups, but bilateral kidney anomalies were more frequent in the mut + group. Hypomagnesemia and hypermagnesuria were the most common abnormalities in mut + patients and were highly selective of HNF1B. Hypomagnesemia based on age-appropriate norms had a better discriminatory value than the age-independent cutoff of 0.7 mmol/l. Pancreatic anomalies were almost exclusively found in mut + patients. No subjects had hypokalemia; the mean serum potassium level was lower in the HNF1B cohort. The abovementioned, discriminative parameters were selected for the model, which showed a good performance (area under the curve: 0.85; sensitivity of 93.67%, specificity of 73.57%). A corresponding calculator was developed for use and validation., Conclusions: This study developed a simple tool for predicting HNF1B mutations in children and young adults with CAKUT., (© 2024. The Author(s).)

Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase A. FD-affected patients represent a highly variable clinical course with first symptoms already appearing in young age. The disease causes a progressive multiple organ dysfunction affecting mostly the heart, kidneys and nervous system, eventually leading to premature death. Disease-specific management of FD includes enzyme replacement therapy with agalsidase α and β or pharmacological oral chaperone migalastat. Migalastat is a low-molecular-mass iminosugar, that reversibly binds to active site of amenable enzyme variants, stabilizing their molecular structure and improving trafficking to the lysosome. Migalastat was approved in the EU in 2016 and is an effective therapy in the estimated 35-50% of all patients with FD with amenable GLA gene variants. This position statement is the first comprehensive review in Central and Eastern Europe of the current role of migalastat in the treatment of FD. The statement provides an overview of the pharmacology of migalastat and summarizes the current evidence from the clinical trial program regarding the safety and efficacy of the drug and its effects on organs typically involved in FD. The position paper also includes a practical guide for clinicians on the optimal selection of patients with FD who will benefit from migalastat treatment, recommendations on the optimal selection of diagnostic tests and the use of tools to identify patients with amenable GLA mutations. Areas for future migalastat clinical research have also been identified., (© 2024. The Author(s).)

IgA nephropathy (IgAN) is a progressive form of kidney disease defined by glomerular deposition of IgA. Here we performed a genome-wide association study of 10,146 kidney-biopsy-diagnosed IgAN cases and 28,751 controls across 17 international cohorts. We defined 30 genome-wide significant risk loci explaining 11% of disease risk. A total of 16 loci were new, including TNFSF4/TNFSF18, REL, CD28, PF4V1, LY86, LYN, ANXA3, TNFSF8/TNFSF15, REEP3, ZMIZ1, OVOL1/RELA, ETS1, IGH, IRF8, TNFRSF13B and FCAR. The risk loci were enriched in gene orthologs causing abnormal IgA levels when genetically manipulated in mice. We also observed a positive genetic correlation between IgAN and serum IgA levels. High polygenic score for IgAN was associated with earlier onset of kidney failure. In a comprehensive functional annotation analysis of candidate causal genes, we observed convergence of biological candidates on a common set of inflammatory signaling pathways and cytokine ligand-receptor pairs, prioritizing potential new drug targets., (© 2023. The Author(s), under exclusive licence to Springer Nature America, Inc.)

Introduction: The development of molecular biology methods and their application in microbial research allowed the detection of many new pathogens that cause urinary tract infections (UTIs). Despite the advances of using new research techniques, the etiopathogenesis of UTIs, especially in patients undergoing dialysis and patients after kidney transplantation, is still not fully understood., Methods: This study aimed to characterize and compare the composition of the bacterial element of the urinary tract microbiome between the groups of patients undergoing dialysis ( n = 50) and patients after kidney transplantation ( n = 50), with positive or negative urine culture, compared to healthy individuals ( n = 50)., Results: Asymptomatic bacteriuria was observed in 30% of the urine cultures of patients undergoing dialysis and patients after kidney transplantation, with Escherichia coli as the most dominant microorganism (73%) detected with the use of classical microbiology techniques. However, differences in the bacterial composition of the urine samples between the evaluated patient groups were demonstrated using the amplicon sequencing. Finegoldia , Leptotrichia , and Corynebacterium were found to be discriminative bacteria genera in patients after dialysis and kidney transplantation compared to the control group. In addition, in all of urine samples, including those without bacteriuria in classical urine culture, many types of bacteria have been identified using 16S rRNA sequencing., Discussion: The revealed microbial characteristics may form the basis in searching for new diagnostic markers in treatment of patients undergoing dialysis and patients after kidney transplantation., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Jaworska, Pecyna, Jaskiewicz, Rydzanicz, Kaluzna, Pawlaczyk, Ploski, Nowak-Malczewska, Karolak and Gajecka.)

Several mechanisms have been suggested to explain positive cardiovascular effects observed in studies with sodium-glucose co-transporter 2 (SGLT2) inhibitors. The reduction in glucose reabsorption in proximal tubuli induced by SGLT2 inhibitors increases urinary glucose and sodium excretion resulting in increased osmotic diuresis and consequently in decreased plasma volume, followed by reduced preload. In addition, the hemodynamic effects of SGLT2 inhibition were observed in both hyper and euglycemic patients. Due to the complex and multidirectional effects induced by SGLT2 inhibitors, this originally antidiabetic group of drugs has been successfully used to treat patients with heart failure as well as for subjects with chronic kidney disease. Moreover, their therapeutic potential seems to be even broader than the indications studied to date.

Fabry disease is an X-linked inherited lysosomal disorder that causes accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and reduced life expectancy. It can affect both males and females and can be classified into classic or later-onset phenotypes. In classic Fabry disease, α-galactosidase A (α-Gal A) activity is absent or severely reduced and disease manifestations have an early onset that can affect multiple organs. In contrast, in later-onset Fabry disease, patients have residual α-Gal A activity and clinical features are primarily confined to the heart. Individualized therapeutic goals in Fabry disease are required due to varying phenotypes and patient characteristics, and the wide spectrum of disease severity. An international group of expert physicians convened to discuss and develop practical clinical recommendations for disease- and organ-specific therapeutic goals in Fabry disease, based on expert consensus and evidence identified through a structured literature review. Biomarkers reflecting involvement of various organs in adult patients with classic Fabry disease are discussed and consensus recommendations for disease- and organ-specific therapeutic goals are provided. These consensus recommendations should support the establishment of individualized approaches to the management of patients with classic Fabry disease by considering identification, diagnosis, and initiation of disease-specific therapies before significant organ involvement, as well as routine monitoring, to reduce morbidity, optimize patient care, and improve patient health-related quality of life., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Context: Flaxseed has a characteristic fatty acids composition and unique phytonutrient profile that may have health-promoting properties., Objective: This study aimed to determine the effects of 10 weeks of supplementation with the flaxseed (28 g/day) on endothelial cells (EC) function, serum lipids and proinflammatory mediators in patients with mild and severe dyslipidaemia., Materials and Methods: Eleven lean patients with severe dyslipidaemia treated with apheresis (group 1; 10 weeks treated in four phases: (i) ordinary diet, (ii) ordinary diet + flaxseed, (iii) ordinary diet (wash out), (iv) ordinary diet + placebo) and eleven obese patients with mild dyslipidaemia-not treated with apheresis (group 2; 10 weeks treated in two phases: (i) ordinary diet, (ii) low fat diet + flaxseed). Flaxseed was given blindly. Serum was collected at the end of each phase of the study. ECs were exposed in vitro to the medium supplemented with pooled serum taken from patients from both groups to detect their morphological changes using light and electron microscopy. ECs proliferation was also measured at the end of each study phase., Results: Serum vascular endothelial growth factor was decreased after flaxseed supplementation but only in group 1. ECs proliferation was increased after flaxseed supplementation only in obese patients. ECs exposed to medium supplemented with obese patients' serum revealed the following cellular abnormalities: accumulation of lipid droplets, changes of rough endoplasmic reticulum and mitochondria, and flaxseed did not reverse observed changes. At the same time, flaxseed supplementation decreases total cholesterol in both tested groups, low-density lipoprotein cholesterol in group 1 and triglycerides in group 2., Conclusions: Our findings support the potential role of flaxseed in treating dyslipidaemia but indicate only a slight impact on endothelial cell function.

Background: The population of end-stage renal disease (ESRD) patients with diabetes mellitus (DM) may be at increased risk of protein energy wasting (PEW). The aim of the study was to investigate the impact of DM on selected indicators of PEW in the ESRD population that was undergoing maintenance hemodialysis (MHD)., Methods: A total of 515 MHD patients were divided into two subgroups with and without DM. The evaluation of diet composition, Charlson Comorbidity Index (CCI), SGA, and laboratory and BIS analyses were performed. All-cause and cardiovascular mortality was recorded., Results: DM patients had lower albumin (3.93 (3.61-4.20) vs. 4.10 (3.80-4.30) g/dL, p < 0.01), total cholesterol (158 (133-196) vs. 180 (148-206) mg/dL, p < 0.01), and creatinine (6.34 (5.08-7.33) vs. 7.12 (5.70-8.51) mg/dL, p < 0.05). SGA score (12.0 (10.0-15.0) vs. 11.0 (9.0-13.0) points, p < 0.001), BMI (27.9 (24.4-31.8) vs. 25.6 (22.9-28.8) kg/m 2 , p < 0.001), fat tissue index (15.0 (11.4-19.6) vs. 12.8 (9.6-16.0) %, p < 0.001), and overhydration (2.1 (1.2-4.1) vs. 1.8 (0.7, 2.7) L, p < 0.001) were higher in the DM group. Increased morbidity, reflected in the CCI and mortality-both all-cause and cardiovascular-were observed in DM patients., Conclusions: Hemodialysis recipients with DM experience overnutrition with a paradoxically higher predisposition to PEW, expressed by a higher SGA score and lower serum markers of nutrition. This population is also more comorbid and is at higher risk of death, including from cardiovascular causes.

Introduction: Cardiovascular mortality in patients with end-stage renal disease (ESRD) remains high despite advances in dialysis techniques. This can be attributed to several traditional and nontraditional risk factors. Overhydration seems to be one of the promising cardiovascular risk factors that could be targeted to improve survival. Objectives: We aimed to assess the effect of chronic overhydration as well as changes in the degree of overhydration over time on cardiovascular and all-cause morbidity and mortality in patients undergoing hemodialysis. Patients and methods: We enrolled 511 patients with ESRD undergoing hemodialysis. The hydration status was assessed with whole-body bioimpedance spectroscopy. Patients were divided into 4 subgroups according to baseline hydration status. Additionally, patients with at least 2 follow-up visits (n = 277) were classified into 4 subgroups according to changes in the hydration status over time. Results: Statistical analysis showed that male sex (P <⁠0.001), diabetes (P <⁠0.001), cardiac insufficiency (P <⁠0.001), smoking (P = 0.049), and cerebrovascular events (P = 0.007) were significant risk factors for overhydration. Cardiovascular toxicity of overhydration was reflected by elevated levels of N-terminal pro-B-type natriuretic peptide (P <⁠0.001) and cardiac troponin T (P <⁠0.001). Albumin and total cholesterol levels were the lowest in patients with severe overhydration (P <⁠0.001). Mortality was lower in patients with normal hydration status and mild overhydration (P <⁠0.001) as well as in those with stable low or descending overhydration pattern (P = 0.002). Conclusions: We showed that the degree of overhydration is significantly associated with the incidence of cardiovascular complications and prognosis in patients with ESRD undergoing hemodialysis.

Fabry disease (FD) is an ultra-rare genetic lysosomal storage disease caused by pathologic gene variants resulting in insufficient expression of α-galactosidase A. This enzyme deficiency leads to accumulation of globotriaosylceramide and globotriaosylsphingosine in plasma and in different cells throughout the body, causing major cardiovascular, renal, and nervous system complications. Until 2018, reimbursed enzyme replacement therapy (ERT) for FD was available in all European Union countries except Poland.             We present the preliminary results of the first two years of reimbursed ERT in Poland. We obtained data from the seven largest academic centers in Katowice, Kraków, Wrocław, Poznań, Gdańsk, Warszawa, and Łódź. The questionnaire included the following data: number of patients treated, number of patients qualified for ERT, and patient characteristics.             All centers returned completed questionnaires that included data for a total of 71 patients (28 men and 43 women) as of June 2021. Thirty-five patients with the diagnosis of FD confirmed by genetic testing (22 men and 13 women) had already qualified for reimbursed ERT. Mean (SD) age at the commencement of the ERT program was 39.6 (15.5) years (range 18-79 years). Mean time from the first clinical symptoms reported by the patients to the FD diagnosis was 21.1 (8.9) years, and the mean time from the final diagnosis of FD to the beginning of ERT was 4.7 (4.6) years.             FD is still underdiagnosed in Poland. To identify undiagnosed FD patients and to ensure that patients in Poland benefit fully from ERT, implementation of an effective nationwide screening strategy and close cooperation with a network of rare disease centers is advised., Competing Interests: Competing interests: M.N., J.S., M.K (Kusztal)., report consultation fees from Takeda and Sanofi Genzyme; M.K (Komar)., P.P. report consultation fees from Sanofi Genzyme, M.K (Komar)., P.P., M.N., K.P., K. M.-S and J.S. report speaker fees from Sanofi Genzyme, M.N. and M.K. report speaker fees from Amicus Therapeutics., (Copyright: © 2021 Nowicki M et al.)

Current therapy for Anderson-Fabry disease in Poland includes hospital or clinic-based intravenous enzyme replacement therapy with recombinant agalsidase alpha or beta, or oral pharmacological chaperone therapy with migalastat. Some countries around the world offer such treatment to patients in the comfort of their own homes. The 2020-2021 COVID-19 pandemic has pushed global healthcare providers to evolve their services so as to minimize the risk of COVID-19 exposure to both patients and providers; this has led to advances in telemedicine services and the increasing availability of at-home treatment for various procedures including parenteral drug administration. A total of 80% of surveyed Anderson-Fabry disease patients in Poland would prefer home-based treatment, which would be a safe and convenient alternative to clinic-based treatment if patient selection is based on our proposed algorithm. Our recommendations for home-based treatments appear feasible for the long term care of Anderson-Fabry disease patients during the COVID-19 pandemic and beyond. This may also serve as a basis for home-based treatment programs in other rare and ultra-rare genetic diseases.

Background: Preptin is a bone-anabolic pancreatic peptide hormone. Its role in bone metabolism has been studied in rats and in patients with diabetes, but its levels and significance in bone metabolism in hemodialyzed (HD) patients is unknown., Methods: The relationships between preptin and anthropometric and biochemical parameters related to bone metabolism were studied in 73 patients on chronic hemodialysis (48 males, 25 females; mean age of 57 years; HD vintage of 69.7 months). Of these subjects, 36 patients had diabetes or impaired glucose tolerance (DM/IGT), and 37 patients had normal glucose tolerance (NGT). Dual-energy X-ray absorptiometry of the femoral neck and lumbar spine were also performed., Results: No differences were observed in preptin levels between DM/IGT and NGT HD patients. Preptin was positively correlated with HD vintage (r = 0.312, p = 0.007). Negative correlations between preptin and bone mineral density (BMD), T-score, and Z-score in the lumbar spine (L2-L4) were observed (r = -0.319, p = 0.009; r = -0.341, p = 0.005; r = -0.375, p = 0.002). Preptin was positively correlated with parathormone (PTH) levels (r = 0.379, p < 0.001) and osteocalcin levels (r = 0.262, p = 0.027)., Conclusions: The results indicate that preptin may reflect on bone and mineral metabolism disturbances seen in HD patients. The significant correlation of preptin with PTH and osteocalcin suggests that preptin may be important in indirect measurement of bone turnover in HD patients.

Patient survival continues to increase with the growing quality of dialysis and management of chronic kidney disease (CKD). As such, chronic therapy must include considerations of quality of life (QOL), and this includes the disproportionate prevalence of sexual dysfunction (SD) in this patient population. This review aims to describe the pathophysiological and the psychosocial causes of SD with regard to renal replacement therapy, particularly hemo- and peritoneal dialysis. The differences in its manifestation in men and women are compared, including hormonal imbalances-and therefore fertility, libido, and sexual satisfaction-the experience of depression and anxiety, and QOL. The impact of comorbidities and the iatrogenic causes of SD are described. This review also presents validated scales for screening and diagnosis of SD in CKD patients and outlines novel therapies and strategies for the effective management of SD. Increased prevalence of CKD invariably increases the number of patients with SD, and it is crucial for health care professional teams to become familiar with the clinical tools used to manage this sensitive and under-quantified field. As a known predictor of QOL, sexual function should become a point of focus in the pursuit of patient-centered care, particularly as we seek to achieve as "normal" a life as possible for individuals who receive dialysis.

Background: Fabry disease (FD) is an X-linked disorder related to a deficiency of the lysosomal enzyme alpha-galactosidase A. In Poland, enzyme replacement therapy (ERT) for FD is offered by the National Health Fund only at selected hospital infusion centers. Patients with FB are considered at a high risk of developing complications from COVID-19. Some patients omitted infusions due to fear of infection or outbreaks in hospitals. Lack of alternative infusion sites hampered the situation., Objectives: To analyze the impact of the SARS-CoV-2 pandemic on FD patients, especially their fears and expectations, the Polish FD Collaborative Group collaborated on a survey project., Material and Methods: Between September and November 2020, we distributed a customized survey exploring expectations and fears among FD subjects., Results: Fifty-five individuals (35 receiving ongoing ERT) from different FD centers completed the study. The median age was 40 years [IQR 25; 50], and gender distribution was almost equal (27 F; 28 M). One-fourth of FD patients reported severe disability limiting transportation for infusions that, in the opinion of the other 25% of responders, consumed >4 h. Forty-four (80%) of all would prefer home infusions performed by a nurse (n = 37, 67.3%) or by a trained non-medical person (n = 7, 12.7%), while 8 (14.5%) patients would choose a local hospital. As expected, transportation time (in one direction) was longer in those preferring home infusions (89.4 ±63 vs 36.2 ±67 min; p = 0.02). Also, those with more severe FD manifestation would prefer home infusions to treatment in FD centers (p = 0.03). The vast majority of respondents (n = 46; 83%) would not change their preferences after pandemic termination., Conclusions: To maintain ERT, FD patients prefer home infusions or those given in the nearest hospital, especially during a pandemic.

Background: Hypomagnesemia in patients with congenital anomalies of the kidneys and urinary tract or autosomal dominant tubulointerstitial kidney disease is highly suggestive of HNF1B-associated disease. Intriguingly, the frequency of low serum Mg 2+ (sMg) level varies and is lower in children than in adults with HNF1B mutations that could be partially due to application of inaccurate normal limit of sMg, irrespective of age and gender. We aimed to re-assess cross-sectionally and longitudinally the frequency of hypomagnesemia in HNF1B disease by using locally derived reference values of sMg., Methods: Fourteen children with HNF1B-associated kidney disease were included. Control group comprising 110 subjects served to generate 2.5th percentiles of sMg as the lower limits of normal., Results: In both controls and patients, sMg correlated with age, gender, and fractional excretion of Mg 2+ . In girls, sMg concentration was higher than in boys when analyzed in the entire age spectrum (p < 0.05). In HNF1B patients, mean sMg was lower than in controls as compared with respective gender- and age-specific interval (p < 0.001). Low sMg levels (< 0.7 mmol/l) were found in 21.4% of patients at diagnosis and 36.4% at last visit, which rose to 85.7% and 72.7% respectively when using the age- and gender-adjusted reference data. Similarly, in the longitudinal observation, 23% of sMg measurements were < 0.7 mmol/l versus 79.7% when applying respective references., Conclusions: Hypomagnesemia is underdiagnosed in children with HNF1B disease. sMg levels are age- and gender-dependent; thus, the use of appropriate reference data is crucial to hypomagnesemia in children.

The aim of the study was to evaluate the effectiveness of Angio PLanewave UltraSensitive imaging (Angio PL.U.S.) as an alternative to contrast-enhanced ultrasound (CEUS) and computed tomography angiography (CTA) for endoleak detection and classification in patients after endovascular aneurysm repair. A total of 28 patients underwent a post-endovascular aneurysm repair follow-up with color Doppler ultrasound, power Doppler ultrasound, CEUS, Angio PL.U.S and CTA examinations. CTA revealed 17 endoleaks in 14 patients (50%): 3 type Ia, 13 type II and 1 type III. There were no differences between Angio PL.U.S. and CEUS in terms of sensitivity, specificity or accuracy (93%, 100% and 97%). We did not observe any statistically significant differences between CTA, CEUS and Angio PL.U.S. in terms of the endoleak identification ability. Angio PL.U.S. may be considered as a potential tool to follow-up patients after endovascular aneurysm repair implantation, especially in patients who cannot be examined with CTA or CEUS., (Copyright © 2020 World Federation for Ultrasound in Medicine & Biology. Published by Elsevier Inc. All rights reserved.)

The positive impact of nutritional status on the health and treatment adequacy of peritoneal dialyzed patients has been well established. Protein intake is an important factor used to stratify malnutrition, with inadequate intake leading to protein-energy wasting during the course of therapy. In this review, we discuss the recommendations made by nephrological societies regarding nutrition in this population of dialysis patients. Special attention is given to the intake of protein, and recommendations on the intake of micronutrients are also discussed. Furthermore, factors that may impair nutritional intake and balance are discussed, with mention of the innovative strategies utilized to combat them. In light of inconsistent recommendations that vary between each respective society, as well as a general lack of concise information, it is our intention to call for further research regarding nutritional recommendations in peritoneal dialysis (PD), as well as to advocate for clear and accessible information for patients.

AKI is one of the most common underdiagnosed postoperative complications that can occur after any type of surgery. Contrast-induced nephropathy (CIN) is still poorly defined and due a wide range of confounding individual variables, its risk is difficult to determine. CIN mainly affects patients with underlying chronic kidney disease, diabetes, sepsis, heart failure, acute coronary syndrome and cardiogenic shock. Further research is necessary to better understand pathophysiology of contrast-induced AKI and consequent implementation of effective prevention and therapeutic strategies. Although many therapies have been tested to avoid CIN, the only potent preventative strategy involves aggressive fluid administration and reduction of contrast volume. Regardless of surgical technique-open or endovascular-perioperative AKI is associated with significant morbidity, mortality and cost. Endovascular procedures always require administration of a contrast media, which may cause acute tubular necrosis or renal vascular embolization leading to renal ischemia and as a consequence, contribute to increased number of post-operative AKIs., Competing Interests: The authors declare no conflicts of interest.

Background: Klotho, originally identified as an anti-aging factor, is a transmembrane protein expressed in the kidney. It has been reported that Klotho deficiency could be associated with a loss of residual renal function and cardiovascular complications in peritoneal dialysis (PD) patients., Objectives: The main aim of the study was to evaluate whether serum levels of Klotho correlate with residual diuresis and hydration status in PD patients., Material and Methods: The cross-sectional study involved 57 PD patients ≥18 years of age who had been on PD ≥ 3 months. Serum Klotho was measured using high-sensitivity enzyme-linked immunosorbent assay (ELISA). Hydration status was assessed with bioimpedance analysis (BIA)., Results: Serum levels of soluble Klotho ranged from 100 pg/mL to 700 pg/mL. The patients were divided into 2 subgroups, with Klotho levels below and above the median (260 pg/mL). The data revealed a tendency for lower residual diuresis (1.3 ±1.0 L vs 1.8 ±0.8 L; p = 0.055) in patients with lower levels of Klotho in serum. Serum Klotho correlated negatively with overhydration according to BIA (r = -0.27; p = 0.044) and positively with residual diuresis (r = 0.26; p = 0.045)., Conclusions: Soluble Klotho correlates inversely with hydration status in BIA. Residual urine output, but not dialysis parameters, could be associated with the levels of serum soluble Klotho in PD patients.

Background: High mortality in peritoneal dialysis (PD) patients is associated with the presence of nontraditional cardiovascular risk factors, such as malnutrition. However, hypoalbuminemia in patients undergoing PD may have gender-dependent consequences., Objectives: The aim of the study was to evaluate the relationship between hypoalbuminemia, overhydration (OH), inflammation, and cardiovascular risk, depending on gender., Material and Methods: The group studied consisted of 54 PD patients: 26 male (mean age: 59 ±19 years) and 28 female (mean age: 52 ±15 years). Serum albumin levels were measured routinely by the hospital central laboratory. The degree of OH was assessed by bioelectrical impedance analysis (BIA). Serum concentrations of C-reactive protein (CRP) and interleukin (IL)-6 were measured as inflammatory markers. Levels of N-terminal prohormone of brain natriuretic peptide (NT-proBNP) and troponin T (TnT) were used to assess cardiovascular risk., Results: Median serum albumin concentration was 3.9 g/dL (3.6-4.2 g/dL). Both genders were comparable regarding most parameters except body weight (79 ±16 kg vs 67 ±16 kg; p = 0.009), but no differences were observed in body mass index (BMI) (26.3 ±5.0 kg/m2 vs 26.2 ±5.9 kg/m2; non significant (NS)). There was also no difference in the prevalence of hypoalbuminemia between female and male PD patients (23% vs 21%; NS). In females, low serum albumin concentrations were associated with OH, inflammation and cardiovascular risk, while in males serum albumin levels correlated with the parameters of dialysis and cardiovascular risk., Conclusions: The impact of hypoalbuminemia may be gender-dependent. It seems that hypoalbuminemia is more important for female patients. It is also possible that different mechanisms regulate serum albumin concentration in female and male PD patients.

Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding. About three out of 10,000 pregnancies are affected. Although several monogenic causes of functional obstruction have been defined, it is unknown whether congenital LUTO caused by anatomical blockage has a monogenic cause. Exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853 ∗ ]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage., (Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: The new polypeptide hormones adropin and irisin have a broad impact on human metabolism and energy homeostasis. They could be potential biomarkers of cardiac injury. In end-stage renal disease (ESRD), the clinical importance of adropin and irisin is yet to be investigated., Objectives: The aim of this study was to determine the relationship between these peptides and cardiac status in ESRD patients., Material and Methods: Seventy-nine ESRD patients on hemodialysis (HD), peritoneal dialysis (PD) or after renal transplantation (Tx), and 40 healthy, ageand sex-matched controls (CON) were included in this study. Serum concentrations of adropin and irisin were measured with enzyme-linked immunosorbent assay (ELISA). Cardiac status was estimated by transthoracic echocardiography and the plasma concentration of N-terminal pro-brain natriuretic peptide (NT-proBNP) and cardiac troponin T (cTnT)., Results: The levels of irisin were significantly lower in HD patients as compared to CON. During HD sessions, the concentrations of adropin did not change significantly, whereas the concentrations of irisin increased with borderline significance. Positive correlations were evident between adropin concentration and cTnT as well as NT-proBNP. Adropin was also correlated with left ventricular systolic internal diameter (LVIDs) (r = 0.375, p = 0.045) and relative wall thickness (RWT) (r = -0.382, p = 0.034). Irisin was correlated with right ventricular diameter (RVd) (r = -0.363, p = 0.045). No correlations were found between irisin and adropin, and blood pressure (BP) measurements., Conclusions: Adropin could be a new candidate marker of cardiac dysfunction in HD patients. The cause of low levels of irisin found in HD patients is still unclear. These 2 myokines should be further investigated as potential prognostic markers of cardiac status in HD patients.

Purpose: The aim of the study was to assess the effectiveness of Superb Micro-vascular Imaging (SMI) as an alternative to Contrast-Enhanced Ultrasound (CEUS) and Computed Tomography Angiography (CTA) for endoleak detection and classification in patients followed up after endovascular abdominal aortic aneurysm repair (EVAR)., Materials and Methods: From May 2015 to January 2017, 30 patients underwent post-EVAR follow-up with Color Doppler Ultrasound (CDUS), CEUS, SMI, and CTA examinations. Aneurysmal sac diameter and graft patency were evaluated; endoleaks were identified and classified. Sensitivity, specificity, and accuracy values were calculated for each of the four diagnostic methods of endoleak detection. A percentage of agreement and Cohen's Kappa coefficient were calculated for comparison of methods in terms of endoleak identification., Results: CTA revealed fifteen endoleaks (50%): three type Ia, nine type II, and three type III. The sensitivity of CDUS, CEUS, and SMI relative to CTA was 27%, 100%, and 100%, respectively. Specificity was 93%, 93%, and 93%, respectively. Accuracy was 60%, 97%, and 97%, respectively. There were no differences between SMI and CEUS in terms of sensitivity, specificity, or accuracy (100%, 93%, and 97%). We do not observe statistically significant differences between CTA, CEUS, and SMI concerning endoleak identification ability. The weakest method in endoleak identification was CDUS., Conclusions: The analysis showed that SMI is effective, repeatable, and comparable with the CEUS modality in identification endoleaks after EVAR; it may be considered as a potential tool to monitor patients after EVAR implantation, especially those with renal insufficiency or with an allergy to any contrast media.

Introduction: Body mass decomposition and hydration state imbalances affect patients on maintenance dialysis. We compared body composition, hydration and nutritional state of patients on peritoneal dialysis (PD) and hemodialysis (HD) based on dialysis vintage (DV)., Material and Methods: Three hundred and fifty-nine prevalent patients on HD ( n = 301) and PD ( n = 58) were divided into 3 subgroups depending on DV: < 2 years HD ( n = 41) and PD ( n = 28), 2-4 years HD ( n = 111) and PD ( n = 17), > 4 years HD ( n = 149) and PD ( n = 13). Bioimpedance analysis delivered data including overhydration (OH), Lean (LTM) and adipose lipids mass (FAT). Other measurements included daily diuresis (DD), subjective global assessment (SGA) and serum albumin (alb), C-reactive protein (CRP) and total cholesterol (TChol), and hemoglobin (Hb)., Results: Dialysis vintage < 2 years. Hemodialysis patients were older (65.5 ±18.5 vs. 50.9 ±17.1; p < 0.01) with a higher mortality (28 vs. 1; p < 0.01) and OH (8.0 ±4.3 vs. 1.6 ±3.1; p < 0.001). Hemoglobin (10.6 ±1.5 vs. 11.8 ±1.7; p < 0.05), TChol (180.2 ±47.0 vs. 211.7 ±46.3; p < 0.05), DD (871 ±729 vs. 1695 ±960; p < 0.001) and LTM (46.5 ±12.9 vs. 53.8 ±14.4; p < 0.05) were lower on HD. Dialysis vintage 2-4 years: when compared to PD, HD patients had higher OH (11.7 ±5.9 vs. 2.1 ±3.2; p < 0.001) and lower Hb (10.8 ±1.5 vs. 11.9 ±1.4; p < 0.01). Dialysis vintage > 4 years: compared to PD, HD patients had higher LTM (44.3 ±11.7 vs. 38.6 ±7.9; p < 0.05) and lower FAT (34.4 ±11.1 vs. 42.8 ±6.4; p < 0.01)., Conclusions: Dialysis patients' body composition depends on dialysis modality and DV. Dialysis vintage < 2 years is associated with better hydration, nutritional state, and survival in PD patients, but longer DV reduces these benefits. Dialysis vintage > 4 years associated with similar hydration and mortality in both PD and HD while body composition was better on HD.

Purpose: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland., Methods: A retrospective analysis of a national cohort with genetically confirmed diagnosis., Results: Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the OCRL gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0-21 years). The most common features were tubular proteinuria (100%), hypercalciuria (87%), and nephrocalcinosis (56%). CKD (≤stage II) and growth deficiency were found in 45 and 22% of patients, respectively. Over time, a progression of CKD and persistence of growth impairment was noted. Subnephrotic and nephrotic proteinuria (20%) was found in most patients, but tubular proteinuria was assessed in only 67% of patients. In one family steroid-resistant nephrotic syndrome prompted a genetic testing, and reverse phenotyping. Five children (20%) underwent kidney biopsy, and two of them were treated with immunosuppressants. Hydrochlorothiazide and angiotensin-converting enzyme inhibitors were prescribed for a significant proportion of patients (42 and 37.5%, respectively), while supplemental therapy with phosphate, potassium, vitamin D (12.5% each), and alkali (4.2%) was insufficient, when compared to the percentages of patients requiring repletion., Conclusions: We found CLCN5 mutations in the vast majority of Polish patients with DD. Proteinuria was the most constant finding; however, tubular proteins were not assessed commonly, likely leading to delayed molecular diagnosis and misdiagnosis in some patients. More consideration should be given to optimize the therapy.

Introduction: Peripheral microembolism is one of the most frequent causes of acute limb ischemia. In order to effectively prevent relapses it is essential to localize and eliminate the source of embolism., Aim: To evaluate the role of Duplex Doppler ultrasound examination in identifying the causes of blue toe syndrome (BTS)., Material and Methods: The group of 165 patients with clinical symptoms of BTS on their upper limbs ( n = 16) and lower limbs ( n = 149) was investigated. They all underwent Duplex Doppler ultrasound of the major arteries of the extremities, where ischemic changes occurred., Results: Morphological and functional changes which might be potential sources of microembolism were identified in 146 patients. These changes included significant short-length stenoses or unstable atherosclerotic plaque ( n = 73), true aneurysms ( n = 42) and pseudoaneurysms ( n = 17). In 11 cases, pathology of vascular prostheses in the form of anastomotic aneurysms, infection and residual thrombi after fibrinolysis was detected. In all cases, Duplex diagnosis was confirmed by other imaging and intraoperative tests., Conclusions: Duplex Doppler ultrasound of the arteries in the affected limb with a full length view should be the first-line examination in diagnosing patients with BTS. In the absence of hemodynamic blood flow disturbances in the major arteries in patients with symptoms of BTS, it is advisable to start haematological tests to identify/exclude congenital or acquired thrombophilia.

Background: Cardiovascular (CV) incidents are the major cause of mortality in maintenance dialysis (MD) patients undergoing peritoneal dialysis (PD) or hemodialysis (HD). CV injury indicators may be useful to investigate the dialysis modality influence on survival., Objectives: The aim of this study was to compare selected laboratory and echocardiographic (ECHO) markers of CV injury in terms of dialysis vintage (DV), CV-related mortality and all-cause mortality., Material and Methods: The study involved 301 patients on HD (n = 301) and PD (n = 58), who were divided into subgroups according to DV. The subjects' medical histories included diabetes mellitus (DM), myocardial infarction (MI), stroke, CV deaths and deaths from non-CV causes. Their CV parameters were measured with ECHO for the left ventricle ejection fraction (EF), posterior wall (LVW) and interventricular septum (IVS). Serum analyses of cardiac troponin T (TnT) and N-terminal pro-brain natriuretic peptide (BNP) were also carried out., Results: In the subgroup with a DV of 4 years, the PD and HD patients were of a similar age, and had similar mortality and morbidity rates and CV markers, except for thicker IVS in the HD patients., Conclusions: Focusing on the data analysis based on mortality, and both laboratory and echocardiographic markers of cardiovascular injury, PD seems to be a more favorable method of dialysis. The advantage of PD was noted in subjects with a DV < 2 years. HD showed no outcome benefit over PD in longer DV.

Background/aims: Hemodialysis induces an intravascular inflammatory reaction which may further deteriorate renal function. We studied changes of serum interleukin 6 (IL6) and hepatocyte growth factor (HGF) concentrations during dialysis sessions, and at 12 month intervals. The synthesis of these cytokines in arterial endothelial cells in the presence of serum obtained from dialyzed patients was studied. Changes of the inflammatory reaction during 12 months of treatment were correlated with GFR., Methods: The study was performed on a group of 30 uremic patients treated with hemodialysis. Serum samples were collected before the start of dialysis, 15 minutes, and 4 hours later, when the session was finished. Serum levels of IL6 and HGF were measured with ELISA, as was the effect of serum samples on the synthesis of these cytokines in arterial endothelial cells., Results: At baseline hemodialysis induced an increase of serum IL6 (+10%) and HGF (+164%) levels at the end of the session. After 12 months of treatment predialysis serum IL 6 level was increased as compared to the beginning of the study (+22%), but no change in serum HGF level was observed. At that time the dialysis-induced rise of serum IL6 level was stronger than at the start (+18%), but the observed effect for HGF was weaker (+116%). An inverse correlation was observed between the dialysis-induced increase of HGF level and decrease of GFR after 12 months of study. The same relation was seen for HGF synthesis in the endothelium, but opposite for IL6 synthesis in the endothelium., Conclusions: We found that a higher HGF serum level during hemodialysis treatment is associated with a slower loss of residual renal function., (© 2017 The Author(s). Published by S. Karger AG, Basel.)

Background: Peritoneal dialysis (PD) patients with preserved residual diuresis have a lower risk of death and complications. Here we analyzed associations between residual diuresis and presence of fluid overload and biomarkers of cardiac strain and nutrition in PD patients., Methods: Among 44 PD patients placed into three subgroups, depending on volume of residual diuresis (group A ≤ 500; group B 600-1900; and group C ≥ 2000 mL/day), we examined: overhydration (OH) assessed by bioimpedance analysis (BIA; yielding OH index OHBIA) and by clinical criteria (edema and hypertension); nutritional status (by subjective global assessment, SGA); metabolic status (electrolytes, serum lipid profile, CRP, and albumin); biomarkers of fluid overload and cardiac strain (N-terminal probrain natriuretic peptide, NT-proBNP, and troponin T, TnT); and, echocardiography and chest X-ray., Results: With increasing residual diuresis in group A, B and C, fewer patients had signs of overhydration defined as OHBIA > 1.1 L (75.0, 42.9 and 33.3 %) or peripheral edema (25.0, 21.4 and 0 %) and NT-proBNP (15199 ± 16150 vs. 5930 ± 9256 vs. 2600 ± 3907 pg/mL; p < 0.05) and TnT (0.15 ± 0.17 vs. 0.07 ± 0.09 vs. 0.04 ± 0.03 ng/mL; p < 0.05) were significantly lower. Significant differences were found also in ejection fraction, SGA, and total cholesterol, albumin and hemoglobin levels whereas blood pressures and serum CRP did not differ significantly., Conclusion: Signs of OH and cardiac strain are common in PD patients, even in those with diuresis of 1000-2000 mL/day and with no clinical signs or symptoms, suggesting that even moderate decrease in residual renal function in PD patients associate with OH and other complications.

Introduction: Systemic inflammation, as defined by elevated blood IL-6, is a strong independent predictor of peritoneal dialysis (PD) patient survival. The present study has aimed to determine whether there exists a particular "phenotype" associated with high systemic IL-6 that characterizes PD patients in terms of their fluid status and cardiac parameters., Methods: Fifty-seven prevalent PD patients were classified according to serum concentrations of IL-6. The degree of overhydration was assessed by bioimpedance analysis (BIA). Echocardiography and serum concentrations of NT-proBNP and troponin T were used to assess cardiovascular risk., Results: Patients with high serum IL-6 were older, more often diabetic, treated with PD for longer, and significantly more overhydrated. There was a significant correlation between serum IL-6, hydration status (r=0.38; p=0.002) and serum albumin (r=-0.35; p=0.009). Multivariate regression analysis confirmed a strong association of overhydration, hypoalbuminemia, and systemic IL-6 concentration. Patients with high IL-6 had significantly increased levels of both NT-proBNP (r=0.36; p=0.006) and TnT (r=0.50; p<0.001) in the absence of abnormalities in echocardiography., Conclusions: High systemic IL-6 identifies PD patients with increased cardiovascular risk that is significantly related to overhydration. Thus, the measurement of serum IL-6 may contribute to the more accurate assessment of cardiovascular status in patients undergoing PD., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

INTRODUCTION    Newly discovered myokines, adropin, and irisin, are regulators of energy homeostasis and metabolism in humans. In end-stage renal disease (ESRD), the significance and role of irisin and adropin as metabolism regulators are still unclear. OBJECTIVES    The aim of this study was to evaluate serum adropin and irisin levels and establish their relation to insulin resistance, nutritional status, and hydration status in patients on chronic hemodialysis (HD) and on peritoneal dialysis (PD). PATIENTS AND METHODS    The study consisted of 71 subjects, including 48 patients (18 women, 30 men; median age, 56.5 years; range, 26-84 years) either on HD (n = 41) or PD (n = 7) and 36 healthy controls matched for age and sex. We measured the serum levels of adropin, irisin, creatinine, albumin, glucose, and insulin, as well as the plasma levels of lipids. The bioimpedance method was used to evaluate the body composition and overhydration in patients with ESRD. RESULTS    Irisin levels were significantly lower in patients with ESRD compared with controls, but there were no differences in adropin levels between both study groups. Adropin levels were inversely correlated with body mass, lean tissue mass, total, intracellular, and extracellular water, and albumin concentrations in patients with ESRD. Irisin levels were positively correlated with glucose levels and homeostasis model assessment of insulin resistance. No significant correlations were observed between adropin and irisin concentrations and overhydration. CONCLUSIONS    Adropin may be considered as a new marker of nutritional status in patients with ESRD. The significance and cause of low irisin levels characteristic for these patients are still unclear. Adropin and irisin should be further investigated as possible markers of cachexia and insulin resistance in patients with ESRD.

Background: Although the beneficial effect of revascularisation on reduction of local clinical ischaemic symptoms has been well established, its effect on systemic vascular endothelial function has not been fully explained yet., Aim: To determine changes in endothelium-dependent flow-mediated dilatation in patients with unilateral femoropopliteal occlusion receiving medical and surgical treatment., Methods: Seventy-nine patients with symptomatic atherosclerotic ischaemia of lower extremities, treated with endovascular procedures, with femoropopliteal graft, or receiving conservative treatment (21-day controlled treadmill training) were enrolled in the study. Ankle brachial pressure index (ABPI), skin blood flow on the feet, and flow-mediated dilatation (FMD) of brachial arteries were measured in each patient at baseline and after 90 days of follow-up., Results: The ABPI, vasomotion in the myogenic frequency band, and FMD increased significantly in surgical patients. In patients after femoropopliteal bypass a significant increase of vasomotion in the endothelial frequency band was also observed. In patients receiving conservative treatment (treadmill training), vasomotion in the myogenic frequency band increased whereas the FMD remained unchanged., Conclusions: It seems that surgical treatment may contribute to reducing the risk of cardiovascular complications in patients with advanced peripheral artery disease, as a result of improving the systemic vascular endothelial function. Limiting treatment to just treadmill training increases pain-free walking distance but does not improve systemic vascular endothelial function.

The aim of this study was to assess the epidemiology of different patterns of chronic glomerular diseases based on clinical, histopathological and immunofluorescent findings of glomerulonephritis patients hospitalized in the Department of Nephrology, Transplantology and Internal Diseases in Poznan between January 2009 and December 2012. We retrospectively studied 418 patients who had been subjected to renal biopsies. Data on serum creatinine concentration, 24 h proteinuria, arterial hypertension, diabetes mellitus, and histological and immunofluorescent findings were collected. The patients' mean age was 42 ±15. The male sex prevailed (53.1%). Immunoglobulin A nephropathy was the most common finding (18.9%), followed by focal segmental glomerulosclerosis (16.3%), membranous glomerulonephritis (10.1%), lupus nephritis (8.4%), extracapillary glomerulonephritis (3.3%) and membranoproliferative glomerulonephritis (2.6%). In 69 (16.5%) patients the biopsy was non-informative or non-diagnostic. Patients with membranous nephropathy presented the highest frequency of nephrotic syndrome (71.4%), followed by membranoproliferative glomerulonephritis and focal segmental glomerulosclerosis. Combined analysis of the clinical, histopathological and immunofluorescent findings in glomerulonephritis patients based on a single center's data can provide important epidemiological findings.

BACKGROUND In patients with chronic leg ischemia, the beneficial effect of arterial revascularization can be significantly decreased due to postoperative leg swelling. The aim of this study was to assess the effects of intermittent pneumatic compression (IPC) on skin flow normalization in patients undergoing revascularization procedures due to chronic leg ischemia. MATERIAL AND METHODS We evaluated 116 patients with chronic leg ischemia. The patients were divided into groups according to the performed treatment (endovascular or surgical) and implementation of IPC postoperatively. The leg edema assessment and microcirculation flow assessment were performed pre- and postoperatively, using percutaneous O2 pressure (TcpO2), cutaneous blood perfusion (CBP) measurements, and skin flow motion assessment. RESULTS In patients who did not receive IPC, a decrease in CBP value was observed in the 1st postoperative assessment. Among patients receiving IPC, the CBD value increased at the 1st and 2nd postoperative measurements, especially in the surgical group. The lowest TcpO2 values were observed in by-pass surgery group without IPC postoperatively. CONCLUSIONS The benefits of the by-pass procedure in patients with leg ischemia can be significantly reduced by postoperative edema. Among patients with postoperative leg edema, local tissue blood perfusion can be improved by the use of IPC, which can result in decreased local leg swelling, as well as improved skin blood perfusion and TcpO2.

Background: Dent disease (DD) is a rare X-linked tubulopathy characterized by a proximal tubular dysfunction leading to nephrocalcinosis/nephrolithiasis and progressive renal failure. The disease is associated with a mutation either in CLCN5 or OCRL genes. We aim to define clinical and genetic disease characteristics and summarize treatments of Polish patients with DD., Methods: The study cohort consists of 10 boys (aged 5 - 16.5 years) whose data were collected through POLtube Registry., Results: All of the patients had tubular proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis. Renal impairment and growth deficiency were found in 3 patients and rickets in 2 patients. In total, 9 of 10 patients carried a mutation in the CLCN5 gene. Five of 9 detected mutations were novel. In 1 patient with a clinical phenotype of DD, no mutations in either CLCN5 or OCRL were discovered. Therapy consisted of thiazides in 7 patients, and phosphate supplements and enalapril in 3 cases. Growth hormone therapy was initiated in 3 patients and resulted in improved growth rate., Conclusions: We report clinical and molecular characterization of Polish children with DD. Our study suggests that this tubulopathy may be generally under-diagnosed in Poland. The study revealed variable treatments, demonstrating a need for therapeutic guidelines.

Purpose: Patients with end stage renal failure (ESRD) report low quality of life and inflammation may be one of the contributing factors. We studied if the hemodialysis induced inflammation correlates with the patients quality of life., Methods: Study was performed in 76 (35 males and 41 females) ESRD patients treated with hemodialysis. Effect of one dialysis session on blood concentration of Vascular Endothelial Growth Factor (VEGF), Hepatocyte Growth Factor (HGF), Interleukin 6 (IL6) and Monocyte Chemoattractant Protein-1 (MCP-1) was studied. Results were correlated with answers given by patients to a short questionnaire composed of questions from Kidney Disease Quality of Life Short Form (KDQoL-SF) questionnaire., Results: Hemodialysis induced increase of serum level of HGF (+117%) and IL-6 (+17%). Declared by patients health status correlated with their age, GFR, kt/V and hemodialysis induced change in serum IL6 and HGF level (R(2) = 0469, P < 0.001). Physical activity correlated with age, serum IL-6 and hemodialysis induced change in serum HGF and VEGF (R(2) = 0.362, P < 0.001). Presence of social/mental problems during previous 4 weeks correlated with age, serum HGF and hemodialysis induced changes in serum HGF and VEGF levels (R(2) = 0.333, P < 0.001). Interference of the kidney disease with daily life activities correlated with age, serum VEGF and hemodialysis induced change in serum HGF and IL6 levels (R(2) = 0.422, P < 0.001)., Conclusion: Inflammation correlates with reduced quality of life in ESRD. Low hemodialysis-induced release of the anti-inflammatory cytokine HGF correlates with impaired quality of life in that group of patients.

Background: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multi-systemic disorder, almost always characterized by the triad of congenital cataract, cognitive and behavioral impairment and a proximal tubulopathy., Methods: Twenty-eight novel patients with suspected Lowe syndrome were studied., Results: All patients carried OCRL gene defects with mutational hot spots at CpG dinucleotides. Mutations previously unknown in Lowe syndrome were observed in ten of the 28 patients, and carriership was identified in 30.4 % of the mothers investigated. Mapping the exact breakpoints of a complete OCRL gene deletion revealed involvement of several flanking repeat elements. We noted a similar pattern of documented clinically relevant symptoms, and even though the patient cohort comprised relatively young patients, 32 % of these patients already showed advanced chronic kidney disease. Thrombocytopenia was seen in several patients, and hyperosmia and/or hyperacusis were reported recurrently. A p.Asp523Asn mutation in a Polish patient, associated with the typical cerebrorenal spectrum but with late cataract (10 year), was also evident in two milder affected Italian brothers with ocular involvement of similar progression., Conclusions: We have identified clinical features in 28 patients with suspected Lowe syndrome that had not been recognized in Lowe syndrome prior to our study. We also provide further evidence that OCRL mutations cause a phenotypic continuum with selective and/or time-dependent organ involvement. At least some of these mutants might exhibit a genotype-phenotype correlation.

Objective: The pathogenesis of abdominal aortic aneurysm (AAA) is connected with abnormal extracellular matrix remodeling, with the assistance of extracellular matrix metalloproteinases and tissue inhibitors of metalloproteinases (TIMPs). A decrease in tissue inhibitor of metalloproteinases 2 (TIMP2) gene expression was detected in AAA patients. Recently, a -418 G/C (rs8179090) polymorphism of the TIMP2 gene promoter, influencing the transcription rate of the gene, has been described. This study investigated whether the -418 G/C gene polymorphism is associated with AAA in the Polish population., Methods: The TIMP2 gene promoter polymorphism was evaluated by polymerase chain reaction, followed by restriction enzyme analysis and pyrosequencing in 128 patients affected by AAA and in 180 individuals included as references. The control group was directly matched to patients according to known risk factors for vascular diseases., Results: The frequency of the C allele was significantly higher in AAA patients than in the control group (odds ratio [OR], 2.516; P = .0005). The distribution of genotypes also differed significantly between the groups (CC + CG vs GG: OR, 2.906; P = .0037) or was close to being significantly different (CC vs GG + GC: OR, 2.144; P = .0501). A similar trend was observed in men but not in women. The multivariate logistic regression analysis indicated the TIMP2 gene promoter polymorphism is risk factor of AAA in the Polish population, with an adjusted OR of 4.99, when applied to a dominant inheritance model., Conclusions: Our study supports the hypothesis that TIMP2 and the -418G/C polymorphism located in the promoter of the TIMP2 gene are important in AAA pathophysiology., (Copyright © 2015 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.)