Nephron最新文献

{"title":"Patient and Caregiver Involvement in Identifying and Designing Interventions for Trials in Chronic Kidney Disease: A Scoping Review.","authors":"Rebecca Wu, Anastasia Hughes, Javier Recabarren Silva, Chandana Guha, Carmel M Hawley, Nicole Scholes-Robertson, Amanda Sluiter, Luca G Torrisi, Andrea Viecelli, Anita van Zwieten, Germaine Wong, Allison Jaure","doi":"10.1159/000546864","DOIUrl":"10.1159/000546864","url":null,"abstract":"<p><strong>Background: </strong>Patient and caregiver involvement in identifying and designing health interventions can enhance the acceptability and uptake of interventions for person-centered care and outcomes. Our aim was to describe the approaches used to involve patients and caregivers in the identification and design of interventions in chronic kidney disease (CKD).</p><p><strong>Methods: </strong>Electronic databases were searched to April 2024 for articles that described the involvement of patients and caregivers in the identification and design of interventions for research in CKD. The findings were synthesized using a framework that addressed the type of intervention, purpose and reason of involvement, population involved, mode of involvement, and impacts of patient/caregiver involvement on the intervention.</p><p><strong>Results: </strong>We identified 14 studies that involved patients with CKD (n = 238) and/or caregivers (n = 36). The types of interventions included psychosocial, educational, lifestyle, and navigator programs. Patients and caregivers were involved to identify and prioritize features of the intervention, describe their lived experience to inform the intervention, provide feedback on intervention design, and identify potential facilitators and barriers to the uptake of the intervention. Patients and caregivers were involved as members of steering committees and advisory groups, and participated through workshops, interviews, focus groups, meetings, and an online messaging forum. The input of patients and caregivers resulted in the addition and changes to intervention features (e.g., content, structure, delivery, and materials) to personalize the intervention and to improve its inclusivity, accessibility, and suitability.</p><p><strong>Conclusion: </strong>Very few studies have described patient and caregiver involvement in the identification and design of interventions for research in CKD. Patients and caregivers were mostly involved in developing educational, lifestyle, and navigator interventions. Further efforts to involve patients and caregivers in developing interventions for research can help maximize the uptake and impact of person-centered interventions.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-14"},"PeriodicalIF":2.3,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144285454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparing Revised Cardiac Risk Index and American University of Beirut HAS2 in End-Stage Renal Disease Patients Undergoing Noncardiac Surgery: A Retrospective Analysis of the National Surgical Quality Improvement Program Database.","authors":"Ritesh Patel, Katherine DiPastina, Vipul Bhat, Matthew Stern, Pranav Patel, Krystal Hunter, Jean Sebastien Rachoin","doi":"10.1159/000546927","DOIUrl":"10.1159/000546927","url":null,"abstract":"<p><strong>Background: </strong>End-stage renal disease (ESRD) patients are at a higher risk of perioperative complications. Existing perioperative risk assessment tools have been mainly validated in the general population. Despite the heightened risk of postoperative complications in patients with ESRD, there is a significant gap in research dedicated to studying preoperative risk calculators for this vulnerable population.</p><p><strong>Methods: </strong>We conducted a retrospective study of patients in the Acute Care Surgery National Surgical Quality Improvement Program database from 2008 to 2012. We compared the performance of the Revised Cardiac Risk Index (RCRI) and the American University of Beirut HAS2 (AUB-HAS2) in predicting cardiovascular events in patients with ESRD.</p><p><strong>Results: </strong>We analyzed 32,337 ESRD patients. The cohort had a mean age of 61.1 years, with 43.2% females. Key comorbidities included diabetes (47.4%), hypertension (85.1%), and history of myocardial infarction (MI) (4.2%). Mortality was 9.9%, with a composite outcome of death, MI, or stroke occurring in 11.3% of the patients. The RCRI and AUB-HAS2 scores were significantly associated with increased mortality and composite outcome, with mortality rates rising from 4.4% to 19.2% across RCRI scores and 1.8% to 23% across AUB-HAS2 scores. ROC curve analysis demonstrated the superior predictive performance of the AUB-HAS2 score over the RCRI for both mortality and composite outcome. Regression analysis confirmed the AUB-HAS2 score's superior discrimination ability.</p><p><strong>Conclusion: </strong>Our findings suggest that the AUB-HAS2 score may be more effective than the RCRI in predicting cardiovascular events in patients with ESRD undergoing surgery.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-8"},"PeriodicalIF":2.3,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144285453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thrombotic Microangiopathy in Renal Allograft Induced by Valproic Acid Treatment in Addition to Tacrolimus and Everolimus: A Case Report.","authors":"Azusa Kobayashi, Asami Takeda, Shoji Saito, Hibiki Shinjo, Daiki Iguchi, Kenta Futamura, Manabu Okada, Takahisa Hiramitsu, Shunji Narumi, Yoshihiko Watarai","doi":"10.1159/000546925","DOIUrl":"10.1159/000546925","url":null,"abstract":"<p><strong>Introduction: </strong>Thrombotic microangiopathy (TMA) is a known complication in renal transplant recipients and is often associated with drugs like calcineurin inhibitors (CNIs) and mammalian target of rapamycin (mTOR) inhibitors. Additionally, toxic levels of valproic acid have been implicated in systemic TMA. This report describes a case of pathologic TMA in a renal allograft that may be induced by the combined use of CNI, mTOR inhibitor, and valproic acid at standard doses.</p><p><strong>Case presentation: </strong>A 37-year-old female diagnosed with glomerulonephritis underwent ABO-compatible living donor renal transplantation. Following the procedure, the blood concentrations of tacrolimus (CNI) and everolimus (mTOR inhibitor) were maintained at optimal levels. Two and a half years posttransplant, valproic acid therapy was initiated for migraine management and titrated within the therapeutic range. Despite the gradual decline in renal function, there was no evidence of anemia or thrombocytopenia. Four years posttransplant, a graft biopsy identified a necrotic thrombotic microvascular lesion suggestive of acute TMA, despite no signs of rejection. Renal function stabilized after the discontinuation of valproic acid.</p><p><strong>Conclusion: </strong>Pathological TMA may impair renal function in patients receiving multiple drugs known to induce TMA. Hence, an early graft biopsy may be crucial for diagnosis, even when blood levels of immunosuppressive drugs are within the therapeutic range.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-5"},"PeriodicalIF":2.3,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144285455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mini Review Banff 2022 Updated Classification of Renal Allograft Pathology.","authors":"Tomokazu Shimizu, Toshihito Hirai, Kohei Unagam, Toshio Takagi, Hideki Ishida","doi":"10.1159/000546870","DOIUrl":"10.1159/000546870","url":null,"abstract":"<p><strong>Background: </strong>The 16th Banff Meeting for Allograft Pathology was held in Banff, Canada from September 19 to 23, 2022. The results were published in the American Journal of Transplantation in March this year as \"The Banff 2022 Kidney Meeting Report: Reappraisal of Microvascular Inflammation and the Role of Biopsy-Based Transcript Diagnostics.\"</p><p><strong>Summary: </strong>The changes in the Banff 2022 classification (Banff 2022) have four distinct features. The first was the modification of antibody-mediated rejection (AMR). The key points are microvascular inflammation/injury (MVI); the presence or absence of C4d deposition in the peritubular capillaries; and the presence or absence of donor-specific antibodies (DSAs). Even if the MVI is above the threshold, if C4d and DSA are negative, it is not classified as AMR but as \"MVI, DSA-negative, and C4d-negative.\" Furthermore, if MVI is below the threshold, C4d is negative but DSA is positive, the patient is classified under \"probable AMR.\" Second, patients with acute tubular injury (ATI) without other obvious causes such as ischemia are excluded from AMR. Third, the Banff cv score for \"arterial intimal fibrosis of new onset\" (AIFNO) is excluded from AMR when used alone. Fourth, non-human leukocyte antigen (HLA) antibodies, except for anti-blood group antibodies in ABO-incompatible kidney transplants, were excluded from DSA and included in the diagnostic criteria for AMR.</p><p><strong>Key messages: </strong>The changes in Banff 2022 are as follows: implementation of new terminology, such as MVI, DSA-negative, and C4d-negative and probable AMR, ATI, and AIFNO are excluded from AMR, and non-HLA antibodies are excluded from DSA.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-5"},"PeriodicalIF":2.3,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Impact of the Selective Cytopheretic Device on Neutrophil-to-Lymphocyte Ratios and Hematological Parameters in Acute Kidney Injury: A Pooled Analysis.","authors":"Sai Prasad N Iyer, Nicholas J Ollberding, Jay L Koyner, Lenar T Yessayan, Kevin K Chung, H David Humes","doi":"10.1159/000546528","DOIUrl":"10.1159/000546528","url":null,"abstract":"<p><strong>Background: </strong>The selective cytopheretic device (SCD) is an immunomodulatory cell-directed extracorporeal therapy that reprograms activated neutrophils and monocytes towards immune homeostasis in hyperinflammatory conditions such as acute kidney injury (AKI). However, clinical mechanisms remain unclear.</p><p><strong>Methods: </strong>We examined the effect of SCD treatment from prior AKI adult clinical studies on systemic inflammation through neutrophil-to-lymphocyte ratios (NLR) and other hematological measures to gain insights into the mechanism of the SCD. Linear-mixed effects regression was used to estimate differences in NLR and other hematological measures between SCD-treated patients and controls over the first 6 days after initiating continuous kidney replacement therapy (CKRT).</p><p><strong>Results: </strong>Hematological data were analyzed from 76 adult patients with AKI requiring CKRT treated with the SCD, and 32 CKRT-only control patients. SCD reduced NLR across all individual studies through day 6 of treatment, while the control group demonstrated upward trends in NLR past day 3. When analyzed as pooled groups, both cohorts displayed similar baseline NLRs (SCD = 23.6 vs. control = 21.7; p = 0.636). SCD-treated patients demonstrated a statistically significant reduction in NLR vs. control patients at day 6 (SCD = 13.3 vs. control = 25.7 at day 6; ptrend = 0.011). This difference was maintained following sensitivity analysis upon exclusion of an ICU study due to a shorter follow-up period (SCD = 13.7 vs. control = 25.6; ptrend = 0.013). NLR reductions in the SCD group were driven by decreases in neutrophils and increases in lymphocytes. No statistically significant differences were observed between groups for monocyte-to-lymphocyte ratio levels or platelets over the same treatment duration.</p><p><strong>Conclusions: </strong>In a pooled analysis of multiple AKI adult clinical studies, SCD treatment demonstrated reductions in NLR. This analysis provides further clinical mechanistic evidence of leukocyte immunomodulation in targeting the dysregulation of effector immune cells in hyperinflammatory conditions such as AKI and sepsis.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-13"},"PeriodicalIF":2.3,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12227192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Telepathology in Renal Allograft Pathology: Current Trends and Future Prospects.","authors":"Akihiro Tsuchimoto, Yuta Matsukuma, Kenji Ueki, Kosuke Masutani, Toshiaki Nakano","doi":"10.1159/000546527","DOIUrl":"10.1159/000546527","url":null,"abstract":"<p><strong>Background: </strong>In contemporary kidney transplantation, the pathology is important for diagnosing various problems with an allograft. Striking a balance is essential to achieve accuracy and speed of a diagnosis. However, because of the distinctive characteristics of renal allograft pathology, there is a lack of pathologists with expertise in this specific domain.</p><p><strong>Summary: </strong>A telepathology system using digital pathology can facilitate the delivery of diagnostic outcomes even in settings where pathologists with expertise may not be continuously available. This system is equivalent in diagnostic ability and superior in speed to the method using conventional diagnosis by light microscopy with glass slides. The pathology guidelines of various countries have emphasized the importance of ensuring the quality of digital pathology. Although maintaining the quality of diagnosis is necessary, telepathology in renal allograft pathology is an innovative tool that can shorten the time to diagnosis and address the shortage of pathologists. Unfortunately, the routine use of telepathology is currently limited to only a few institutions in Japan. One of the reasons for this limited use is the heavy burden on facilities requesting biopsies to set up infrastructure, such as slide scanners and servers.</p><p><strong>Key message: </strong>Consequently, there is an urgent need for greater public support of telepathology.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-8"},"PeriodicalIF":2.3,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144199600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metabolic Dysfunction-Associated Fatty Liver Disease in Advanced Chronic Kidney Disease: Impact on Patient Survival.","authors":"Cesar Garcia-Cantón, Yaiza Rivero, Elvira Bosch, Fátima Batista, Jesus M Gonzalez-Martin, Selene González, Sonia Guinea, Antonio Tugores, Sara Aladro, Sara Afonso, Saulo Fernandez, Domingo Hernandez, Mauro Boronat","doi":"10.1159/000546525","DOIUrl":"10.1159/000546525","url":null,"abstract":"<p><strong>Introduction: </strong>Metabolic dysfunction-associated fatty liver disease (MAFLD) is a prevalent liver condition commonly associated with obesity, metabolic syndrome, and type 2 diabetes mellitus. It has also been linked to an increased risk of cardiovascular events and overall mortality. Recent studies have established pathophysiological connections between MAFLD and chronic kidney disease (CKD). This study aimed to determine the prevalence of MAFLD in patients with advanced chronic kidney disease (ACKD), identify associated factors, and evaluate its impact on patient survival.</p><p><strong>Methods: </strong>A retrospective longitudinal cohort study was conducted with incident patients diagnosed with stage 4 or 5 CKD, not on dialysis, who initiated care for ACKD between 2011 and 2015. Clinical and laboratory data were collected, and the presence of MAFLD was estimated using the Fatty Liver Index (FLI). To assess the impact of FLI and other variables on survival, Kaplan-Meier univariate analysis and Cox regression multivariate analysis were performed, with follow-up through February 2024.</p><p><strong>Results: </strong>Among 367 patients, 60.2% had diabetes, and 70.8% had an FLI ≥60. Age and diabetes mellitus were significant factors associated with a higher likelihood of FLI ≥60. FLI was identified as an independent risk factor for decreased survival in patients with diabetes, after adjusting for other variables (HR, 1.015; 95% CI 1.004-1.027; p = 0.009). However, in non-diabetic patients, FLI was not a significant predictor of lower survival in multivariate Cox regression analysis.</p><p><strong>Conclusions: </strong>MAFLD is highly prevalent in patients with ACKD, particularly among those with diabetes, for whom it may represent an independent risk factor for reduced survival. This association was not observed in non-diabetic ACKD patients. These results suggest the need to design preventive and treatment strategies for MAFLD in this population.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-12"},"PeriodicalIF":2.3,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144143229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chronic Allograft Injury by Recurrent Crystalline Nephropathy of Adenine Phosphoribosyl Transferase Deficiency, Even after Early Initiation of Xanthine Oxidase Inhibitor.","authors":"Noriko Uesugi, Yoshifumi Miura, Yuuki Nakafusa, Naoko Ikeda, Kousuke Masutani","doi":"10.1159/000546495","DOIUrl":"10.1159/000546495","url":null,"abstract":"<p><strong>Introduction: </strong>Adenine phosphoribosyl transferase (APRT) deficiency is a rare genetic disorder of purine metabolism that results in excessive renal excretion of poorly soluble 2,8-dihydroxyadenine (DHA), leading to urolithiasis, crystalline nephropathy, and renal failure. Recurrence after renal transplantation usually occurs in the early posttransplantation period and is sometimes the initial indication for the disease. Allograft survival is poor without adequate treatment with xanthine oxidase (XOR) inhibitors to reduce DHA levels.</p><p><strong>Case presentation: </strong>A 49-year-old Japanese man with a history of recurrent renal stones presented with mild renal dysfunction 3 months after renal transplantation. Allograft biopsy revealed numerous brown crystals within the tubules and active interstitial inflammation. Febuxostat, a high-dose XOR inhibitor, was immediately prescribed. APRT deficiency was confirmed through urine metabolome analysis. The patient's renal function improved, and the febuxostat dose was subsequently reduced. One-year allograft biopsy demonstrated markedly reduced inflammation and crystals; however, an expanded scarred area with focal active inflammation and a few small crystals were observed.</p><p><strong>Conclusion: </strong>XOR inhibitors effectively reduce the crystals of recurrent APRT deficiency; however, they cannot prevent chronic injury. Diagnosing recurrent crystalline nephropathy and initiating XOR inhibitors as early as possible is essential for improving allograft survival.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-5"},"PeriodicalIF":2.3,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances on Novel Biomarkers of Alloimmunity in Kidney Transplantation.","authors":"Claudia Carrera, Delphine Kervella, Elena Crespo, Florianne Hafkamp, Oriol Bestard","doi":"10.1159/000545425","DOIUrl":"10.1159/000545425","url":null,"abstract":"<p><p>Despite major advancements in transplant rejection physiopathology and the refinement of immunosuppressive therapies over the past decades, improvements in graft and patient survival remains limited. A potential explanation is the insufficient implementation of biomarkers for individualized alloimmune risk stratification in clinical transplantation. Enormous efforts have focused in the last decades on developing sensitive and specific biomarkers to enable more personalized, non-invasive rejection diagnostics and informed treatment decisions in the transplant process. These biomarkers have distinct purposes; pre-transplantation, biomarkers aim to improve current donor-recipient immunological matching and rule out preformed anti-donor immune memory, whereas post-transplantation, their main aim focuses on identifying anti-donor alloimmune activation and on-going subclinical rejection in a non-invasive manner. This review summarizes the most advanced biomarkers and immune assays in the field, categorizing them by their diagnostic, prognostic, and predictive capabilities, and discusses their current validation status and integration into clinical trial designs aimed at improving transplant outcomes. Among them, we here highlight those assessing alloimmune susceptibility or activation, such as donor/recipient HLA molecular matching, donor (HLA/non-HLA)-specific antibodies (DSA), donor-reactive memory T and B cells, peripheral gene expression profiling (GEP) as well as some specific circulating immune cell phenotypes; and furthermore, we discuss those biomarkers diagnosing on-going subclinical graft injury, including donor-derived cell-free DNA (dd-cfDNA), and urinary chemokines or transcriptional biomarkers. Most importantly, these biomarkers are often complementary: some reflect ongoing alloimmune responses and may guide immunosuppression decisions, while others may provide early warnings of allograft injury prior to clinical manifestation. While some have progressed to advanced validation stages with strong diagnostic and prognostic value, others remain in early development. Rigorous interventional clinical trials are warranted to establish their clinical utility and define their role in transplant precision medicine to ultimately improve current clinical outcomes.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-15"},"PeriodicalIF":2.3,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Fabry Nephropathy in Patients with N215S Variant.","authors":"Renzo Mignani, Gian Marco Berti, Gisella Vischini, Roberta Di Costanzo, Francesca Ciurli, Benedetta Fabbrizio, Gianandrea Pasquinelli, Gaetano La Manna, Irene Capelli","doi":"10.1159/000545611","DOIUrl":"10.1159/000545611","url":null,"abstract":"<p><strong>Background: </strong>Fabry disease (FD) is a rare, X-linked lysosomal storage disorder that affects both males and females. It is caused by pathogenic variants in the gene that encodes the enzyme α-galactosidase A, GLA. The classic form of the disease begins in childhood, presenting with a range of signs and symptoms that can lead to severe complications such as stroke, as well as cardiac and renal failure. In the late-onset form, the disease appears in adulthood, often with signs of cardiac involvement.</p><p><strong>Summary: </strong>The N215S (p.Asn215Ser) missense mutation represents the most common late-onset variant in European countries. In these patients, cardiac involvement is usually more prominent than extracardiac signs and symptoms, which is why this form is often referred to as a cardiac variant. Renal involvement in the N215S variant has historically been considered infrequent and relatively mild, contributing little to the overall disease burden of late-onset FD, as it has not been thoroughly investigated.</p><p><strong>Key messages: </strong>In this review, we examine Fabry nephropathy in patients with the late-onset N215S variant, providing an insight into the clinical and histopathologic aspects of renal involvement in these individuals.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-5"},"PeriodicalIF":2.3,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143795699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}