The most common founder pathogenic variant c.868G > A (p.Val290Met) in the gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.

Background: Genetic focal segmental glomerulosclerosis (FSGS) is caused by pathogenic variants in a broad spectrum of genes that have a variable representation based on subjects' ethnicity and/or age. The most frequently mutated autosomal recessive gene in FSGS is . In this study, we analyzed the spectrum of variants and their associated phenotype in Czech adult FSGS patients.

Rejection-associated Phenotype of De Novo Thrombotic Microangiopathy Represents a Risk for Premature Graft Loss.

Background: Thrombotic microangiopathy (TMA) significantly affects kidney graft survival, but its pathophysiology remains poorly understood.

Methods: In this multicenter, retrospective, case-control paired study designed to control for donor-associated risks, we assessed the recipients' risk factors for de novo TMA development and its effects on graft survival. The study group consists of patients with TMA found in case biopsies from 2000 to 2019 (n = 93), and the control group consists of recipients of paired kidney grafts (n = 93).

[Bone disesase in end-stage kidney disease - renal and non-renal components].

Metabolic bone disease in chronic kidney disease and end-stage renal failure represents one of the most severe clinical complication in kidney patients, namely those on maintenance dialysis. Traditionally, bone changes are induced by secondary hyperparathyroidism. The CKD-MBD concept reflects the link between bone and cardiovascular disease in these patients.

In vitro comparison of efficacy of catheter locks in the treatment of catheter related blood stream infection.

Background & Aims: Venous access used for parenteral nutrition (PN) application is extremely important for patients with intestinal failure. Potential loss of venous access might be a catastrophy for the patient. Catheter infections are a serious complication of PN application.

Indoxyl Sulfate Elimination in Renal Replacement Therapy: Influence of Citrate- versus Acetate-Buffering Component during Bicarbonate Dialysis.

Indoxyl sulfate has been identified as a major factor in the dysregulation of several genes. It is classified as a poorly dialyzable uremic toxin and thus a leading cause in the poor survival rate of dialysis patients. A monocentric, prospective, open cohort study was performed in 43 male patients undergoing chronic renal replacement therapy in a single hemodialysis center.

Parathyroidectomy in Hyperparathyroidism-Associated Calciphylaxis in End-Stage Renal Disease Should be Prompt and Radical - a Case Report with Two Original Therapeutic Modifications and Successful Outcome.

We present a case of severe calciphylaxis in both thighs and calves in a patient with end-stage renal disease and advanced secondary hyperparathyroidism with successful outcome after modified therapeutic approach. The cause of calciphylaxis is multifactorial. In our case, not only severe hyperparathyroidism and mediocalcinosis, but also medication (warfarin, calcium and active vitamin D) was involved.

Vitamin D Binding Protein Is Not Involved in Vitamin D Deficiency in Patients with Chronic Kidney Disease.

Objective: This study was designed to evaluate vitamin D status with separate determination of 25-OH D2 and 25-OH D3 and its relationship to vitamin D binding protein (VDBP) in patients with chronic kidney disease (CKD) and long-term haemodialysis patients (HD).

Methods: 45 CKD patients, 103 HD patients, and 25 controls (C) were included. Plasma vitamin D concentrations were determined using chromatography and VDBP in serum and urine in CKD using enzyme immunoassay.

Changes of serum calcium, magnesium and parathyroid hormone induced by hemodialysis with citrate-enriched dialysis solution.

Background/aims: In recent years, one of technical attempts to improve biocompatibility and tolerability of the hemodialysis procedure is the substitution of acetate in dialysis solution with citrate. The aim of our study was to compare two dialysis solutions: traditional bicarbonate dialysis solution containing acetate (3 mmol/L) (solution A); and (solution C) commercially produced citrate-enriched bicarbonate dialysis solution (0.8 mmol/L citrate).

Low-dose cholecalciferol supplementation and dual vitamin D therapy in haemodialysis patients.

Background: Traditionally, secondary hyperparathyroidism (SHPT) due to low calcitriol synthesis in failing kidneys has been treated with synthetic vitamin D receptor (VDR) activators. Recently, also the importance of low native vitamin D status beyond the issue of SHPT has been recognized in these patients. The aim of this work was to evaluate the effect of cholecalciferol supplementation in haemodialysis patients with low vitamin D serum levels.

Denosumab associated with bone density increase and clinical improvement in a long-term hemodialysis patient. Case report and review of the literature.

Denosumab is a human monoclonal antibody representing a novel therapy of osteoporosis. Contrary to always other antiosteoporotic drugs, it is not contraindicated in advanced chronic kidney disease, as its pharmacokinetic does not differ from patients with normal kidney function. However, published case reports in chronic kidney disease (CKD) patients stopped the therapy after single dose because of hypocalcemia.

Modulation of inflammatory response in sepsis by proteasome inhibition.

The Ubiquitin-proteasome system has recently been shown to be involved in the regulation of cytokine expression. We tested the hypothesis of whether the in vivo administration of proteasome inhibitor MG-132 can modulate cytokine response and mortality in sepsis. Sepsis was induced in mice by caecal ligation and puncture (CLP).

Aspects of protein and amino acid metabolism in a model of severe glutamine deficiency in sepsis.

Background/aims: Growth hormone (GH) could have the potential to improve protein metabolism in sepsis but glutamine deficiency has been reported after GH treatment. The aim was to investigate the effects of glutamine deficiency in sepsis with and without GH treatment on protein and amino acid metabolism.

Methods: Cecal ligation and puncture (CLP) was used as a model of sepsis.

Effects of proteasome inhibitors MG132, ZL3VS and AdaAhx3L3VS on protein metabolism in septic rats.

Proteasome inhibitors are novel therapeutic agents for the treatment of cancer and other severe disorders. One of the possible side effects is influencing the metabolism of proteins. The aim of our study was to evaluate the influence of three proteasome inhibitors MG132, ZL(3)VS and AdaAhx(3)L(3)VS on protein metabolism and leucine oxidation in incubated skeletal muscle of control and septic rats.

Acute effects of acidosis on protein and amino acid metabolism in perfused rat liver.

Acidosis is frequently associated with protein wasting and derangements in amino acid metabolism. As its effect on protein metabolism is significantly modulated by other abnormal metabolic conditions caused by specific illnesses, it is difficult to separate out the effects on protein metabolism solely due to acidosis. The aim of the present study was to evaluate, using a model of isolated perfused rat liver, the direct response of hepatic tissue to acidosis.

Acute effects of decreased glutamine supply on protein and amino acid metabolism in hepatic tissue: a study using isolated perfused rat liver.

Glutamine deficiency, a common finding in severe illness, has a negative influence on immune status, protein metabolism, and disease outcome. In several studies, a close relationship between glutamine, branched-chain amino acid (BCAA), and protein metabolism was demonstrated. The aim of the present study was to investigate the effect of glutamine deficiency on amino acid and protein metabolism in hepatic tissue using a model of isolated perfused rat liver (IPRL).

[Method of measurement of protein metabolism in isolated skeletal muscle of the rat].

The aim of our present research is to evaluate the direct effects of humoral factors on protein metabolism. For this purpose we have adopted a method that enables measuring of parameters of protein and amino acid metabolism in isolated m. soleus and m.