Kidney and dialysis最新文献

{"title":"Genetic Variability of HUPRA Syndrome—A Case Report","authors":"E. Petrosyan, M. Molchanova, B. Kushnir, Patritsia Povilaitite, P. Tsygankova, E. Zakharova, M. Proskura","doi":"10.3390/kidneydial3020018","DOIUrl":"https://doi.org/10.3390/kidneydial3020018","url":null,"abstract":"HUPRA syndrome is a rare autosomal recessive mitochondrial disorder caused by a mutation in the SARS2 gene encoding mitochondrial seryl-tRNA synthetase (mtSerRS). It includes hyperuricemia, pulmonary hypertension, renal failure, and alkalosis. We present a case report of a boy aged 1 year 2 months with premature anemia, hyperuricemia, pulmonary hypertension, renal failure, and alkalosis and diagnosed with HUPRA syndrome. This disease is known to be progressive and fatal. A genetic test revealed a new previously undescribed heterozygous nucleotide variant in exons 14 and 1 of the SARS2 gene. The nucleotide substitution c.1295G > A (p.Arg432His) was detected in exon 14; according to the criteria of the American College of Medical Genetics (ACMG), this missense mutation is probably pathogenic. The nucleotide substitution c.227T > C (p.Leu76Pro) was detected in exon 1; according to the ACMG criteria, this missense mutation is a variant of unclear significance. We suggest that previously undescribed nucleotide substitutions in the SARS2 gene revealed in a patient with typical clinical presentation of the HUPRA syndrome should be considered as a pathogenic mutation.","PeriodicalId":74038,"journal":{"name":"Kidney and dialysis","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47470818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of L-Carnitine in Kidney Disease and Related Metabolic Dysfunctions","authors":"T. Ulinski, Maria Cirulli, M. Virmani","doi":"10.3390/kidneydial3020016","DOIUrl":"https://doi.org/10.3390/kidneydial3020016","url":null,"abstract":"Kidney disease is associated with a wide variety of metabolic abnormalities that accompany the uremic state and the state of dialysis dependence. These include altered L-carnitine homeostasis, mitochondrial dysfunctions, and abnormalities in fatty acid metabolism. L-carnitine is essential for fatty acid metabolism and proper mitochondrial function. Deficiency in kidney disease and dialysis is caused by a reduction in endogenous renal synthesis, impaired fatty acid metabolism, a lower intake due to dietary restrictions, and nonselective clearance by the dialysis procedure. Free carnitine levels <40 µmol/L in dialysis patients can lead to dialysis-related complications, such as anemia that is hyporesponsive to erythropoietin therapy, intradialytic hypotension, cardiovascular disease, and skeletal muscle dysfunction manifested as muscle weakness and fatigue. L-carnitine deficiency is also seen in acute kidney injury (AKI) resulting from trauma and/or ischemia, drugs such as cisplatin, and from infections such as covid. A persistent state of L-carnitine deficiency can further damage kidneys and lead to multi-organ failure. Carnitine supplementation has been shown to be safe and effective in improving kidney disease-related complications resulting from drug-induced toxicity, trauma, ischemic injury, infection, and dialysis, by replenishing adequate carnitine levels and rebalancing carnitine homeostasis. In this review, we will examine the protective role of L-carnitine in reducing cellular oxidative damage and maintaining mitochondrial function together with the clinical evidence for its potential use in the management of kidney disease.","PeriodicalId":74038,"journal":{"name":"Kidney and dialysis","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42032238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Importance of Lifestyle Interventions in the Prevention and Treatment of Chronic Kidney Disease","authors":"E. Castle, S. Greenwood, R. Müller","doi":"10.3390/kidneydial3020017","DOIUrl":"https://doi.org/10.3390/kidneydial3020017","url":null,"abstract":"Chronic kidney disease (CKD) is a global health problem, with a prevalence of approximately 13 [...]","PeriodicalId":74038,"journal":{"name":"Kidney and dialysis","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44697490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kidney Biopsy in a Patient with Cardiorenal Metabolic Syndrome—How to Interpret Histopathology","authors":"E. Zakharova, O. Vorobyeva","doi":"10.3390/kidneydial3020015","DOIUrl":"https://doi.org/10.3390/kidneydial3020015","url":null,"abstract":"The components of Cardiorenal Metabolic Syndrome (CRMS) include central obesity, insulin resistance, hypertension, metabolic dyslipidemia, proteinuria, and/or reduced glomerular filtration rate. Kidney biopsy is rarely performed in patients with CRMS; histopathology findings include glomerulopathy, podocytopathy, mesangial expansion and proliferation, glomerular basement thickening, global and segmental sclerosis, interstitial fibrosis and tubular atrophy, and arterial sclerosis and hyalinosis. We report a case of CRMS with slow progression during 10 years of follow-up on chronic kidney disease (CKD). The middle-aged patient had central obesity, hypertension, dyslipidemia, cardiovascular disease, type 2 diabetes mellitus, proteinuria, and CKD stage G3b-G4. Kidney biopsy, performed 3 years after the first presentation, led to the diagnosis of chronic thrombotic microangiopathy (TMA) and complement-associated glomerulopathy. This was not compatible with the medical history and the course of the disease, and previous kidney biopsy review showed metabolic nephropathy with glomerulomegaly, global and segmental glomerulosclerosis, tubular atrophy and interstitial fibrosis, arteriosclerosis, and lipid embolus in the lumen of one artery, and found neither TMA features nor C3 deposition. The reported case demonstrates the importance of an accurate and thoughtful reading and interpretation of kidney biopsy, and stresses that disregarding medical history may potentially mislead and alter the understanding of the true cause of CKD.","PeriodicalId":74038,"journal":{"name":"Kidney and dialysis","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43168206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of Left Ventricular Diastolic Function Parameters between Patients with Unplanned and Planned Hemodialysis Initiation: A Cross-Sectional Study","authors":"Takayuki Yoshioka, Seiya Inoue, Hitoshi Kohriyama, Yoshisuke Haruna, Minoru Satoh, Nobutaka Inoue","doi":"10.3390/kidneydial3020014","DOIUrl":"https://doi.org/10.3390/kidneydial3020014","url":null,"abstract":"Despite the increasing number of dialysis patients, there is still no clear consensus regarding when a permanent access device should be prepared and renal replacement treatment should be undertaken. The purpose of this study was to evaluate left ventricular diastolic function at the start of dialysis between patients in a planned or unplanned manner according to the 2016 recommendations of the American Society of Echocardiography/European Association of Cardiovascular Imaging (ASE/EACVI). We designed a single-center, cross-sectional study to use echocardiography to evaluate and compare left ventricular diastolic function at the onset of dialysis between patients in planned and unplanned groups. A total of 21 patients were included in our analysis (11 initiated dialysis in a planned manner and 10 did so in an unplanned manner). E/A and E/E′ were significantly high in the unplanned dialysis initiation group (p = 0.048 and p = 0.003, respectively). Furthermore, the number of patients with an E/E′ ratio of >14 and tricuspid regurgitation velocity of >2.8 was also significantly high in the unplanned dialysis initiation group (80% vs. 18%; p = 0.009, 40% vs. 0%; p = 0.035, respectively). According to the American Society of Echocardiography and the European Association of Cardiovascular Imaging Recommendation in 2016, the number of patients with left ventricular diastolic dysfunction was significantly high in the unplanned dialysis initiation group (80% vs. 18%; p = 0.009). The current study demonstrated that left ventricular diastolic dysfunction is more apparent in incident dialysis patients in an unplanned manner. Our findings suggest that the assessment of left ventricular diastolic function by echocardiography may be an indication of when to create a permanent access device and initiate dialysis.","PeriodicalId":74038,"journal":{"name":"Kidney and dialysis","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43513808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pregnancy in Chronic Kidney Disease","authors":"Larisa Shehaj, R. Kazancioglu","doi":"10.3390/kidneydial3020013","DOIUrl":"https://doi.org/10.3390/kidneydial3020013","url":null,"abstract":"While pregnancy among end-stage kidney disease patients is rare, the number of females becoming pregnant has been increasing worldwide during the last decade. The frequency of conception in this patient group has been reported to be between 0.3% and 7% per year. The aim of this review is to summarize the latest guidelines and practice points for ensuring the best outcome for both the fetus and the mother.","PeriodicalId":74038,"journal":{"name":"Kidney and dialysis","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44105694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Salt Reduction Using a Smartphone Application Based on an Artificial Intelligence System for Dietary Assessment in Patients with Chronic Kidney Disease: A Single-Center Retrospective Cohort Study","authors":"Akane Yanai, K. Uchiyama, S. Suganuma","doi":"10.3390/kidneydial3010012","DOIUrl":"https://doi.org/10.3390/kidneydial3010012","url":null,"abstract":"This study evaluated the clinical usefulness of an artificial intelligence-powered smartphone application in reducing the daily salt intake of patients with chronic kidney disease (CKD). This study included 35 patients with CKD who were classified into app users (i.e., 13 outpatients who used the app for 3 months and whose salt intake was evaluated before and after using the app) and app nonusers (i.e., 22 outpatients not using the application; their salt intake was similarly evaluated). The primary outcome was estimated as salt intake after 3 months of using the application and at a 6-month follow-up. Linear mixed model analysis revealed that app users had a significant decrease in estimated salt intake after 3 months (−2.12 g/day; 95% CI, −4.05 to −0.19; p = 0.03) compared with app nonusers but not after 6 months (−0.96 g/day; 95% CI, −3.13 to 1.20; p = 0.38). App users showed a significant decrease in body mass index at 3 months (−0.42 kg/m2 [95% CI, −0.78 to −0.049; p = 0.03]) and 6 months (−0.65 kg/m2 [95% CI, −1.06 to −0.24; p = 0.002]). The application promoted short-term reduction in salt intake. These results provide a strong rationale for future trials.","PeriodicalId":74038,"journal":{"name":"Kidney and dialysis","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41996398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PTEN, MMP2, and NF-κB and Regulating MicroRNA-181 Aggravate Insulin Resistance and Progression of Diabetic Nephropathy: A Case-Control Study","authors":"Manoj Khokhar, P. Purohit, S. Tomo, R. Agarwal, A. Gadwal, N. Bajpai, G. Bohra, R. Shukla","doi":"10.3390/kidneydial3010011","DOIUrl":"https://doi.org/10.3390/kidneydial3010011","url":null,"abstract":"Diabetic nephropathy (DN) is characterized by an increase in urinary albumin excretion, diabetic glomerular lesions, and a decline in glomerular filtration rate (GFR). We assessed the expression of phosphatase and tensin homolog (PTEN), nuclear factor kappa-β (NF-κB), matrix metalloproteinase-2 (MMP2), and microRNA-181 in healthy controls (HC), individuals with type 2 diabetes mellitus (T2DM) without nephropathy, and those with DN. Our study investigated the association between these genes, insulin resistance (IR), and eGFR to gain insight into their roles in the pathogenesis and progression of DN. Anthropometric measurements and biochemical tests were conducted on HC (N = 36), T2DM (N = 38) patients, and DN (N = 35) patients. We used real-time polymerase chain reaction (RT-PCR) for whole blood gene expression analysis and performed bioinformatics analyses, including protein–protein interaction, gene ontology, and co-expression networks. We compared our expression data with other GEO-Microarray datasets. Our study highlights the role of IR in the progression of nephropathy in T2DM via the PTEN-Akt-mTOR signalling pathway. We also observed a decreasing trend in the expression of MMP2 and PTEN and an increasing trend in the expression of NF-κB and miR-181b-5p with the progression of nephropathy to the severe stage. The dysregulated expression of MMP2, PTEN, NF-κB, and miR-181b-5p in patients with T2DM contributes to the progression of T2DM to DN by aggravating IR, inflammation, accelerating basement membrane thickening, mesangial matrix expansion, and renal fibrosis.","PeriodicalId":74038,"journal":{"name":"Kidney and dialysis","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44017465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Xerostomia in Dialysis Patients—Oral Care to Reduce Hyposalivation, Dental Biofilms and Gingivitis in Patients with Terminal Renal Insufficiency: A Randomized Clinical Study","authors":"Leonie Egbring, T. Lang, Burkhard Kreft, Karl Weich, P. Gaengler","doi":"10.3390/kidneydial3010010","DOIUrl":"https://doi.org/10.3390/kidneydial3010010","url":null,"abstract":"Objectives: Dialysis patients suffer from xerostomia based on hyposalivation even in stimulated saliva testing. Therefore, the aim of this study was (i) to evaluate an optimized oral hygiene system with an oral care gel reducing oral dryness, supporting dental plaque control and reducing the number of gingivitis affected teeth; (ii) to document the efficacy in a randomized controlled trial with dental indices; and (iii) to record the individual’s oral health related quality of life. Methods: After ethical approval (EC-UWH 103/2019), 44 dialysis patients provided signed informed consent and were divided into two groups followed up for four weeks. Subjects of the verum group (A) received daily oral care gel OROFAN® based on biopolymers with a mild antibacterial and saliva stimulating action. They were compared to the control group (B) who executed routine oral hygiene with conventional dentifrice and toothbrushes. At baseline (T0), the medical report and all dental indices (sialometry, DMF/S, plaque index, periodontal index, tongue coating and denture hygiene index) were assessed. After 2 weeks and 4 weeks, T1 and T2 dry mouth frequency and all dental indices were assessed. An Oral Health Impact Profile was documented at baseline (T0) and at the end of the study (T2). Results: Twenty-two subjects were allocated to group A and to group B. At baseline, there were no statistical differences concerning renal insufficiency (years on dialysis and complications), systemic diseases and dental background (caries experience, periodontal diseases, plaque index and number of gingivitis affected teeth). All subjects exhibited hyposalivation (<0.7–1.0 mL/min). The control group (B) showed no statistical differences from baseline (T0) to the end of the study (T2) in dry mouth parameters, in all dental plaque and inflammation indices and in their Oral Health Impact Profile. In contrast, the verum group (A) exhibited a highly significant (p < 0.001) decrease in xerostomia frequency, in the number of gingivitis affected teeth and in their plaque index. Furthermore, their Oral Health Impact Profile improved considerably (p < 0.01). Significance of Results: Terminally ill patients may gain better oral health and, consequently, an improved quality of life by rather simple oral care using long-lasting, edible anti-inflammatory oral hygiene gel and a dentist’s devotion.","PeriodicalId":74038,"journal":{"name":"Kidney and dialysis","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42172425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fractures in CKD Patients—Risk Analysis in RRT Lombardy Patients","authors":"Ferruccio Conte, D. Roggeri, M. Cozzolino, C. Rossi, C. Zocchetti, A. Roggeri","doi":"10.3390/kidneydial3010009","DOIUrl":"https://doi.org/10.3390/kidneydial3010009","url":null,"abstract":"The increase in the number of patients with CKD starting dialysis treatment has become a major health problem in recent years. Osteoporosis is a typical feature of advanced age, which, in the dialysis population, is almost always accompanied by uremic osteodystrophy (CKD-MBD). These two factors are involved in the pathogenesis of fractures, which represent an important risk factor for the outcome of patients. The real consistency of fractures in CKD patients on kidney replacement therapy (KRT) requiring hospitalization in the Lombardy region (over 9,000,000 inhabitants) was analyzed using data from the regional administrative databases in the years 2011–2012. Among 8109 prevalent patients, 251 (45.8% women), with fractures after 1 January 2011, entered the analysis. A follow-up of two years (2011–2012) was considered to evaluate the incidence of more frequent fractures (femur, pelvis, hip, and spine) using ICD-9-CM codes. The most frequent sites of fractures were the femur (68.5%), hip and pelvis (47.4%), and vertebrae (12%). The patients on hemodialysis (HD) had more events than PD (3.3% vs. 1.4%; p = 0.03), while patients undergoing kidney transplantation (KTx) had a significantly lower percentage of fractures (0.6% vs. 3.3%; p < 0.001). Observed mortality was very high: the estimated gross mortality rate for any cause was 25.9% at 90 days and 34.7% at 180 days. Diabetes, peripheral vasculopathy, and heart failure were associated with a numerical increase in fractures, although this was not significant. Proton pump inhibitor drugs (PPI), vitamin K antagonists, and diphosphonates were more frequently associated with fracture occurrence. The average total cost of fractured patients was 11.4% higher than that of non-fractured patients. On multivariate analysis, age >65 years, female gender, PPI therapy, and cerebrovascular disease were found to be strongly associated with fractures in dialysis patients, whereas undergoing renal transplantation presented a reduced risk.","PeriodicalId":74038,"journal":{"name":"Kidney and dialysis","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46199008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}