Renal FailurePub Date : 2025-12-01Epub Date: 2025-02-17DOI: 10.1080/0886022X.2025.2462264
Lu Huang, Fengying Wang
{"title":"Identification of L-shaped curve association between serum bicarbonate concentrations and short-term outcomes in patients with acute kidney injury: a retrospective cohort study.","authors":"Lu Huang, Fengying Wang","doi":"10.1080/0886022X.2025.2462264","DOIUrl":"10.1080/0886022X.2025.2462264","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to investigate the association between serum bicarbonate levels and short-term outcomes in patients with acute kidney injury (AKI), with a focus on 14-day mortality and AKI progression within a 14-day period.</p><p><strong>Methods: </strong>We conducted a secondary analysis using data from the Electronic Alerts for Acute Kidney Injury Amelioration (ELAIA) study. Serum bicarbonate levels and their associated outcomes were collected for all participants. Cox regression analysis and smooth curve fitting methods were employed to achieve the research objectives.</p><p><strong>Results: </strong>A total of 5,835 patients with AKI were included in the study. After adjustment for confounding factors, patients with serum bicarbonate concentrations below 22 mmol/L had a higher risk of both 14-day mortality and AKI progression compared to those with levels between 22 and 26 mmol/L (hazard ratio [HR] 1.90; 95% confidence interval [CI], 1.51-1.83 for mortality and HR 1.45; 95% CI, 1.23-1.71 for AKI progression, respectively). In contrast, patients with bicarbonate concentrations above 26 mmol/L had a lower risk of 14-day mortality (HR 0.70; 95% CI, 0.53-0.94) and AKI progression (HR 0.90; 95% CI, 0.74-1.10). Subsequent exploratory subgroup analyses revealed no statistically significant interactions (all <i>p</i>-values for interaction > 0.05) between 14-day mortality and serum bicarbonate levels.</p><p><strong>Conclusions: </strong>In this cohort of AKI patients, serum bicarbonate concentrations below 22 mmol/L were associated with increased risks of 14-day mortality and AKI progression, while concentrations above 26 mmol/L were linked to a reduced risk of 14-day mortality.</p>","PeriodicalId":20839,"journal":{"name":"Renal Failure","volume":"47 1","pages":"2462264"},"PeriodicalIF":3.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11837928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Modified Huangqi Chifeng decoction alleviates podocyte injury on rat with experimental membranous nephropathy.","authors":"Meiying Chang, Xiujie Shi, Bin Yang, Peng Li, Yifan Zhang, Qi Zhang, Yu Zhang","doi":"10.1080/0886022X.2025.2459896","DOIUrl":"10.1080/0886022X.2025.2459896","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to investigate the therapeutic effects of modified Huangqi Chifeng decoction (MHCD) on proteinuria in membranous nephropathy (MN) and its potential protective effects on podocytes. Furthermore, we explored whether these effects are associated with the inhibition of the nuclear factor kappa-B (NF-κB) pathway.</p><p><strong>Methods: </strong>Passive Heymann nephritis (PHN) rat model was applied with a single tail vein injection of sheep anti-rat Fx1A serum (0.4 ml/100g). All rats were divided into four groups: normal group, PHN group, benazepril group (10 mg/kg), and MHCD group (12.5 g/kg), and were treated for 6 weeks. 24-hour urine protein levels and serum biochemical parameters were measured. Optical microscopy and transmission electron microscopy were performed to assess pathological changes in renal tissues. Additionally, the expression levels of IgG, C5b-9, nephrin, podocin, Wilms' tumor gene 1 (WT-1), and NF-κB p65 were evaluated.</p><p><strong>Results: </strong>PHN rats exhibited progressive proteinuria over time. However, MHCD treatment significantly reduced levels of proteinuria and triglyceride, while increased levels of albumin. Moreover, MHCD alleviated pathological damage in renal tissues, and reduced the expression of IgG and membrane attack complex (C5b-9). Immunohistochemistry analysis revealed that MHCD increased the expression of nephrin, podocin, and WT-1. Western blot analysis showed that MHCD increased the expression of nephrin and podocin while inhibiting the activation of NF-κB p65.</p><p><strong>Conclusions: </strong>Our findings indicate that MHCD exert reno-protective effects in the experimental rat model of MN by alleviating podocyte damage and inhibiting the NF-κB pathway.</p>","PeriodicalId":20839,"journal":{"name":"Renal Failure","volume":"47 1","pages":"2459896"},"PeriodicalIF":3.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11843643/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143459291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Renal FailurePub Date : 2025-12-01Epub Date: 2025-02-24DOI: 10.1080/0886022X.2025.2460747
Guozhen Wang, Wenwen Mu, Tianxing Zhang
{"title":"Comment on 'the relationship between kidney disease and mitochondria: a bibliometric study'.","authors":"Guozhen Wang, Wenwen Mu, Tianxing Zhang","doi":"10.1080/0886022X.2025.2460747","DOIUrl":"10.1080/0886022X.2025.2460747","url":null,"abstract":"","PeriodicalId":20839,"journal":{"name":"Renal Failure","volume":"47 1","pages":"2460747"},"PeriodicalIF":3.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11864025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143493290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Renal FailurePub Date : 2025-12-01Epub Date: 2025-02-27DOI: 10.1080/0886022X.2025.2470478
Jiaojiao Chen, Yanyun Zhang, Yinglin Wang, Lu Chen
{"title":"Comparative efficacy and safety of febuxostat and allopurinol in chronic kidney disease stage 3-5 patients with asymptomatic hyperuricemia: a network meta-analysis.","authors":"Jiaojiao Chen, Yanyun Zhang, Yinglin Wang, Lu Chen","doi":"10.1080/0886022X.2025.2470478","DOIUrl":"10.1080/0886022X.2025.2470478","url":null,"abstract":"<p><strong>Objective: </strong>This study evaluates and compares the effectiveness and safety of febuxostat and allopurinol in chronic kidney disease (CKD) stages 3-5 patients with asymptomatic hyperuricemia using a network meta-analysis.</p><p><strong>Methods: </strong>A systematic review and network meta-analysis were conducted, adhering to PRISMA-NMA guidelines. Searches included PubMed, Embase, Cochrane Library, and Chinese databases up to June 2024. Randomized controlled trials (RCTs) and cohort studies were assessed for methodological rigor using GRADE.</p><p><strong>Results: </strong>A total of 12 RCTs and 4 cohort studies (<i>n</i> = 2,423 participants) were included. Febuxostat was associated with greater improvements in estimated glomerular filtration rate compared to allopurinol (MD, 4.99 mL/min/1.73 m<sup>2</sup>; 95%CI -0.65 to 10.78; certainty: low) and placebo (MD, 4.72 mL/min/1.73 m<sup>2</sup>; 95%CI 0.67 to 8.82; low). Serum uric acid reduction was also more pronounced with febuxostat (MD, -0.61 mg/dL; 95%CI -1.15 to -0.05; moderate). Safety outcomes, including major cardiovascular events and adverse events, showed no significant differences between febuxostat and allopurinol. Subgroup analyses revealed enhanced effectiveness of febuxostat at six months of treatment.</p><p><strong>Conclusions: </strong>This analysis provides robust evidence that febuxostat might offers greater improvements in kidney function and uric acid levels compared to allopurinol or placebo in asymptomatic hyperuricemia with CKD stage 3-5 patients, without compromising safety. These findings can guide clinical decision-making and treatment optimization.</p>","PeriodicalId":20839,"journal":{"name":"Renal Failure","volume":"47 1","pages":"2470478"},"PeriodicalIF":3.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11869330/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143516526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Renal FailurePub Date : 2025-12-01Epub Date: 2024-12-18DOI: 10.1080/0886022X.2024.2441399
Xiaoyan Ma, Danying Yan, Canxin Zhou, Yingfeng Shi, Yi Wang, Jinqing Li, Qin Zhong, Xialin Li, Yan Hu, Weiwei Liang, Daofang Jiang, Yishu Wang, Ting Zhang, Yilin Ruan, Shasha Zhang, Shougang Zhuang, Na Liu
{"title":"The correlation between protein energy wasting and the incidence of main adverse cardiovascular events in adult maintenance hemodialysis patients: a single-center retrospective cohort study.","authors":"Xiaoyan Ma, Danying Yan, Canxin Zhou, Yingfeng Shi, Yi Wang, Jinqing Li, Qin Zhong, Xialin Li, Yan Hu, Weiwei Liang, Daofang Jiang, Yishu Wang, Ting Zhang, Yilin Ruan, Shasha Zhang, Shougang Zhuang, Na Liu","doi":"10.1080/0886022X.2024.2441399","DOIUrl":"10.1080/0886022X.2024.2441399","url":null,"abstract":"<p><strong>Background: </strong>Protein energy wasting (PEW) is prevalent in adult maintenance hemodialysis (MHD) patients. Concurrently, cardiovascular diseases (CVD) remain a leading cause of mortality in MHD patients. However, the relationship between PEW and CVD in MHD patients remains unclear.</p><p><strong>Methods: </strong>We conducted a retrospective cohort study at Shanghai East Hospital. According to the inclusion and exclusion criteria, a total of 210 adult MHD patients were finally enrolled. Patients were categorized into two groups based on PEW diagnostic criteria, including 122 patients (58.1%) with PEW and 88 patients (41.9%) without PEW. We further analyzed the incidence of major adverse cardiovascular events (MACE) and all-cause mortality in one year, along with their risk factors.</p><p><strong>Results: </strong>MACE incidence was significantly higher in the PEW group compared with the non-PEW group (<i>p</i> = 0.015). Multivariate Cox regression showed PEW, CVD, high N-terminal pro-B-type natriuretic peptide (NT-proBNP) and low Kt/V urea were the risk factors of MACE. Age ≥ 65 years and high NT-proBNP were the risk factors of all-cause death. Among patients aged ≥ 65 years, PEW was associated with a higher risk of all-cause death (<i>p</i> = 0.043). Total cholesterol < 3.4 mmol/L, albumin < 38 g/L and prealbumin < 280 mg/L were the thresholds for MACE incidence in MHD patients with PEW.</p><p><strong>Conclusion: </strong>Adult MHD patients with PEW had an increased risk of MACE and all-cause mortality. Strategies aimed at optimizing total cholesterol, albumin, and prealbumin levels may improve cardiovascular outcomes in adult MHD patients with PEW.</p>","PeriodicalId":20839,"journal":{"name":"Renal Failure","volume":"47 1","pages":"2441399"},"PeriodicalIF":3.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11656757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142855195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Renal FailurePub Date : 2025-12-01Epub Date: 2025-01-02DOI: 10.1080/0886022X.2024.2441392
Michael Kitlinski, Zbigniew Heleniak, Alicja Dębska-Ślizień
{"title":"Hypercoagulability and dyslipidemia in membranous nephropathy with anti-phospholipase A2 receptor antibodies.","authors":"Michael Kitlinski, Zbigniew Heleniak, Alicja Dębska-Ślizień","doi":"10.1080/0886022X.2024.2441392","DOIUrl":"10.1080/0886022X.2024.2441392","url":null,"abstract":"","PeriodicalId":20839,"journal":{"name":"Renal Failure","volume":"47 1","pages":"2441392"},"PeriodicalIF":3.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11703376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142915287","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Screening potential diagnostic biomarkers for PLA2R‑associated idiopathic membranous nephropathy by WGCNA analysis and LASSO algorithm.","authors":"Jinxu Huang, Yaqing Huang, Xiaoling Zeng, Yuhong Zhang, Junneng Zhang, Qingchu Hong, Yongtiao Peng","doi":"10.1080/0886022X.2024.2438859","DOIUrl":"10.1080/0886022X.2024.2438859","url":null,"abstract":"<p><p>Adult nephrotic syndrome is primarily caused by membranous nephropathy (MN), with idiopathic membranous nephropathy (IMN) being a prominent subtype. The onset of phospholipase A2 receptor (PLA2R1)-associated IMN is critically linked to M-type PLA2R1 exposure, yet the mechanism underlying glomerular injury remains unclear. In this study, membranous nephropathy datasets (GSE115857, GSE200828) were retrieved from GEO. Differential gene expression was analyzed using the 'limma' R package. WGCNA filtered PLA2R-related modules and intersected genes. LASSO regression, evaluated by ROC analysis, identified characteristic genes. Binomial logistic regression assessed their association with IMN. Validation was performed in the GSE133288 dataset. IHC and qRT-PCR detected characteristic gene expression in PLA2R-positive patients. This study identified elevated PLA2R expression in IMN patients among 117 DEGs. PPI analysis suggested enrichment in Golgi membranes, co-regulation, and glucocorticoid responsiveness, implicating the PPAR pathway by KEGG. WGCNA revealed a 440-gene brown module associated with IMN-PLA2R, with ECM1, SLC19A2, RASD1, FOSB, KDELR3, ZFP36, and ELF4 highlighted as diagnostic markers by ROC analysis. Clinical validation confirmed ECM1 upregulation increased IMN risk, while upregulation of SLC19A2, ZFP36, RASD1, and FOSB decreased it. ECM1 positively correlated with PLA2R, whereas SLC19A2, ZFP36, and FOSB negatively correlated. IHC analysis demonstrated consistent gene expression patterns in IMN tissues, with podocyte exposure to PLA2R-positive serum reducing viability and increasing apoptosis. Functional studies, prompted by RASD1 downregulation, revealed enhanced cell activity and reduced apoptosis upon RASD1 overexpression compared to the Serum + Ov-NC control. Collectively, this study identified diagnostic markers for PLA2R-related IMN, offering novel therapeutic targets for the treatment of IMN.</p>","PeriodicalId":20839,"journal":{"name":"Renal Failure","volume":"47 1","pages":"2438859"},"PeriodicalIF":3.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11734395/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142979695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Renal FailurePub Date : 2025-12-01Epub Date: 2025-02-16DOI: 10.1080/0886022X.2025.2463560
Jie Chen, Binghan Zhang, Qixuan Huang, Ronghua Fang, Ziyu Ren, Dongfang Liu
{"title":"Key RNA-binding proteins in renal fibrosis: a comprehensive bioinformatics and machine learning framework for diagnostic and therapeutic insights.","authors":"Jie Chen, Binghan Zhang, Qixuan Huang, Ronghua Fang, Ziyu Ren, Dongfang Liu","doi":"10.1080/0886022X.2025.2463560","DOIUrl":"10.1080/0886022X.2025.2463560","url":null,"abstract":"<p><strong>Background: </strong>Renal fibrosis is a critical factor in chronic kidney disease progression, with limited diagnostic and therapeutic options. Emerging evidence suggests RNA-binding proteins (RBPs) are pivotal in regulating cellular mechanisms underlying fibrosis.</p><p><strong>Methods: </strong>Utilizing an extensive GEO dataset (175 renal fibrosis and 99 normal kidney samples), we identified and validated key RBPs through integrated bioinformatics and machine learning approaches, including lasso and logistic regression models. Differentially expressed genes were analyzed for pathway enrichment using Gene Ontology and KEGG. Single-cell RNA sequencing delineated cell-specific RBP expression, and a murine unilateral ureteral obstruction (UUO) model provided experimental validation.</p><p><strong>Results: </strong>A diagnostic model incorporating five RBPs (FKBP11, DCDC2, COL6A3, PLCB4, and GNB5) achieved high accuracy (AUC = 0.899) and robust external validation. These RBPs are implicated in immune-mediated pathways such as cytokine signaling and inflammatory responses. Single-cell analysis highlighted their expression in specific renal cell populations, underscoring functional diversity. Immunofluorescence linked FKBP11 with macrophage infiltration, suggesting its potential as a therapeutic target.</p><p><strong>Conclusion: </strong>his study identifies novel RBPs associated with renal fibrosis, advancing the understanding of its pathogenesis and offering actionable biomarkers and therapeutic targets. The integration of bioinformatics and machine learning emphasizes their translational potential in kidney care.</p>","PeriodicalId":20839,"journal":{"name":"Renal Failure","volume":"47 1","pages":"2463560"},"PeriodicalIF":3.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834823/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Renal FailurePub Date : 2025-12-01Epub Date: 2025-02-17DOI: 10.1080/0886022X.2025.2461676
Hongjian Ye, Ruihua Liu, Peiyi Cao, Qunying Guo, Wei Chen, Haiping Mao, Xiao Yang
{"title":"Peritoneal protein clearance, fluid overload, and cardiovascular events in patients undergoing peritoneal dialysis: a prospective cohort study.","authors":"Hongjian Ye, Ruihua Liu, Peiyi Cao, Qunying Guo, Wei Chen, Haiping Mao, Xiao Yang","doi":"10.1080/0886022X.2025.2461676","DOIUrl":"10.1080/0886022X.2025.2461676","url":null,"abstract":"<p><strong>Background: </strong>The relationship among higher peritoneal protein clearance (PPCl), fluid overload, and increased risk of cardiovascular (CV) events has not been well clarified in peritoneal dialysis (PD) patients. We aimed to examine their associations in a prospective cohort study.</p><p><strong>Methods: </strong>Eligible patients were enrolled from a single center, and PPCl was calculated based on the daily dialysate protein loss corrected for serum albumin. Fluid overload was defined as extracellular water (ECW)/total body water (TBW) ≥0.400 measured by bioelectrical impedance analysis (BIA). The primary outcome was CV events.</p><p><strong>Results: </strong>In total, 351 patients were included in this study. After adjustment for confounders, every 5 mL/day increase in PPCl was independently associated with a 27% higher risk of fluid overload determined by BIA (odds ratio: 1.27, 95% confidence interval (CI): 1.17-1.37). After a median follow-up of 46.8 months, 90 patients (25.6%) experienced CV events. In competing risk models adjusted for confounders, both fluid overload and every 5 mL/day increase in PPCl were independently associated with 70% (subdistribution hazard ratio (SHR):1.70, 95%CI: 1.06-2.74) and 9% (SHR: 1.09, 95%CI: 1.04-1.14) increased risk of CV events, respectively. When fluid overload and PPCl were added simultaneously to the models, PPCl remained a strong independent predictor (SHR: 1.07; 95%CI: 1.03-1.13).</p><p><strong>Conclusions: </strong>Higher PPCl was independently associated with fluid overload determined by BIA in PD patients. Moreover, higher PPCl was independently associated with an increased risk of CV events.</p>","PeriodicalId":20839,"journal":{"name":"Renal Failure","volume":"47 1","pages":"2461676"},"PeriodicalIF":3.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11837914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Renal FailurePub Date : 2025-12-01Epub Date: 2025-02-04DOI: 10.1080/0886022X.2025.2454295
Yuri Battaglia, Federica Baciga, Meilad Shakkour, Savio Russo, Giulia Carnicella, Michela Erlati, Gemma Sartori, Giulia Tronconi, Renzo Mignani, Federico Pieruzzi, Paolo Colomba, Laura Scichilone, Michele Andreucci, Concetto Sessa, Giovanni Duro
{"title":"Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.","authors":"Yuri Battaglia, Federica Baciga, Meilad Shakkour, Savio Russo, Giulia Carnicella, Michela Erlati, Gemma Sartori, Giulia Tronconi, Renzo Mignani, Federico Pieruzzi, Paolo Colomba, Laura Scichilone, Michele Andreucci, Concetto Sessa, Giovanni Duro","doi":"10.1080/0886022X.2025.2454295","DOIUrl":"10.1080/0886022X.2025.2454295","url":null,"abstract":"<p><p>Fabry disease (FD) is a progressive, multisystemic X-linked disorder caused by mutations in the GLA gene, often leading to renal failure. Although several screening programs have been conducted, the prevalence of FD in patients with chronic kidney patients who are not dependent on dialysis (NDD-CKD) is likely underestimated due to restrictive inclusion criteria and methodological shortcomings. This study aims to assess the prevalence of FD in NDD-CKD patients using an expanded screening approach. Ongoing outpatients attending Italian nephrology clinics were screened by assay of plasma α-galactosidase A (α-Gal A) activity. Genetic testing was also performed in all females and males with low α-Gal A activity. Inclusion criteria were: (1) females ≥18 years old; (2) males aged between 18 and 70 years; (3) NDD-CKD stages 1-5. Patients with histological diagnosis of glomerulonephritis or diagnosis of autosomal dominant polycystic kidney disease (ADPKD) were excluded. Demographic data and laboratory results were also collected. Among 385 NDD-CKD outpatients, 173 underwent screening. One patient with three family members carrying a novel mutation (c.320 A > G, p.Q107R); one patient with three family members carrying a silent mutation (c.48 T > G, p.L16L) and two patients with a missense mutation (c.376A > G, p.S126G), were identified. Overall, the prevalence of FD was 2.3%, increasing to 5.4% (10 in 183) with family screening. FD may be more common than previously believed, particularly within NDD-CKD populations. FD screening should be expanded to include NDD-CKD patients with known causes of CKD, such as hypertension and diabetes mellitus, and genetic testing should be routinely used for female patients.</p>","PeriodicalId":20839,"journal":{"name":"Renal Failure","volume":"47 1","pages":"2454295"},"PeriodicalIF":3.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11795759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143190326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}