Nephron最新文献

{"title":"Differential Diagnosis of Thrombotic Microangiopathy: Overlapping Features of Thrombotic Thrombocytopenic Purpura and Complement-Mediated Thrombotic Microangiopathy in a Dengue-Infected Patient.","authors":"Gabriel Sartori Pacini, Renato George Eick, Renata Asnis Schuchmann, Mário Sergio Fernandes, Lucas Gobetti da Luz, Illan George Balestrin, Karla Lais Pêgas, Milton Kalil, Maurício Lutzky","doi":"10.1159/000547796","DOIUrl":"10.1159/000547796","url":null,"abstract":"<p><strong>Background: </strong>Thrombotic microangiopathy (TMA) encompasses a group of rare, life-threatening disorders characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage, most commonly affecting the kidneys. Complement-mediated TMA (CM-TMA), a subtype of TMA, is often associated with dysregulation of the complement system due to genetic mutations. Dengue virus has been recognized as a potential trigger of secondary TMA and may precipitate CM-TMA in genetically predisposed individuals.</p><p><strong>Case presentation: </strong>We report the case of a 47-year-old woman with a history of thrombotic thrombocytopenic purpura (TTP) who presented with fever, gastrointestinal symptoms, anemia, thrombocytopenia, and acute kidney injury. Dengue infection was confirmed by a positive NS1 antigen. Laboratory and peripheral smear findings indicated TMA. Therapeutic plasma exchange was started due to previous history of TTP, with partial clinical response. ADAMTS13 activity was preserved at 60.7%. Kidney biopsy demonstrated features of TMA. Genetic testing identified a heterozygous pathogenic variant in the CD46 gene, supporting the diagnosis of CM-TMA. Notably, the patient showed sustained clinical improvement without the use of eculizumab.</p><p><strong>Conclusion: </strong>This case illustrates the diagnostic challenges of TMA in patients with overlapping clinical features and potential infectious triggers. In dengue-endemic regions, the virus should be recognized as a possible precipitating factor for TMA, particularly in individuals harboring complement gene mutations. A multidisciplinary approach - integrating clinical, laboratory, histopathological, and genetic data - is essential for accurate diagnosis and personalized management of TMA syndromes.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-6"},"PeriodicalIF":1.8,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775858","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":"Clinicopathological Analysis of Collapsing Focal Segmental Glomerulosclerosis after Kidney Transplantation.","authors":"Hikaru Uematsu, Hideyo Oguchi, Noriyuki Kounoue, Tetuo Mikami, Naobumi Tochigi, Masaki Muramatsu, Yoshihiro Itabashi, Junya Hashimoto, Yuko Hamasaki, Ken Sakai","doi":"10.1159/000547779","DOIUrl":"10.1159/000547779","url":null,"abstract":"<p><strong>Introduction: </strong>There is limited evidence regarding collapsing focal segmental glomerulosclerosis (cFSGS) after kidney transplantation. The aim of this study was to clarify the clinicopathological character of cFSGS.</p><p><strong>Methods: </strong>Forty-two biopsies from 35 patients with cFSGS were included in the study. The cFSGS variant was determined according to the Colombia classification. The scoring of arteriosclerosis was evaluated as a score of 0-3 on the basis of the intimal fibrous thickening divided by the media, and other histological scoring was evaluated using the Banff score. Biopsies with a sclerosis score ≥3/4 were excluded from the study. Multivariate analysis was performed by a forward selection method using covariates significantly associated with cFSGS biopsies.</p><p><strong>Results: </strong>Of 42 biopsies diagnosed with FSGS, 19 (45.2%) biopsies were cFSGS and 23 (54.8%) were non-collapsing FSGS (ncFSGS). The cFSGS group had a longer time after transplantation, lower eGFR, higher urine protein levels, and higher systolic blood pressure (all statistically significant) compared with the ncFSGS group. The Banff aah, ci, and arteriosclerosis scores were significantly higher in the cFSGS group compared with the ncFSGS group. There were no significant differences in the donor age or arteriosclerosis in 1-h biopsies between groups. Multivariate analysis showed that the arteriosclerosis score and Banff ci score were significantly associated with cFSGS using covariates that were statistically significant-related factors including systolic blood pressure, eGFR, proteinuria, ci score, aah score, and arteriosclerosis score. Graft survival after the time of biopsy was significantly worse in the cFSGS group compared with the ncFSGS group.</p><p><strong>Conclusion: </strong>Collapsing FSGS was poor prognostic factor for allograft survival. Arteriosclerosis and chronic interstitial fibrosis may be related to cFSGS after kidney transplantation.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-7"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775856","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":"Significance of Glomerular Capillary C4d Deposition in Kidney Allograft Biopsies with Microvascular Inflammation.","authors":"Shintaro Ochiai, Hideyo Oguchi, Masaki Muramatsu, Tetuo Mikami, Noriyuki Kounoue, Yoshihiro Itabashi, Takeshi Kawamura, Yujiro Aoki, Yuko Hamasaki, Ken Sakai","doi":"10.1159/000547778","DOIUrl":"10.1159/000547778","url":null,"abstract":"<p><strong>Aim: </strong>The aim of the study was to elucidate the clinical and histological significance of glomerular capillary C4d (GC-C4d) deposition in allograft biopsies with microvascular inflammation (MVI), indicating antibody-mediated rejection (AMR).</p><p><strong>Methods: </strong>The study included MVI biopsies defined as Banff g score ≥1 and/or peritubular capillary (ptc) score ≥1, with available HLA class I and/or class II single antigen test results. Biopsies with ABO-incompatible transplantation and diagnosis of T-cell-mediated rejection without AMR were excluded. We analyzed 84 allograft MVI biopsies obtained from January 2017 to May 2023. GC-C4d positivity was evaluated by immunofluorescence.</p><p><strong>Results: </strong>GC-C4d positivity was determined in 46 of 84 (54.8%) MVI biopsies. Multivariate logistic analysis identified Banff g score and ptc-C4d score as factors significantly related to GC-C4d positivity in MVI biopsies with Banff cg score 0-3, and ptc score and ptc-C4d score as significantly related to GC-C4d positivity in MVI biopsies with cg0. Multivariate linear regression analysis identified Banff cg score and ptc-C4d score as factors significantly related to GC-C4d score in MVI biopsies with Banff cg0-3, and cadaver and Banff ptc-C4d score were significantly related to GC-C4d score in MVI biopsies with cg0. In MVI biopsies with cg0-3, evaluation of GC-C4d and/or ptc-C4d positivity decreased the specificity from 100.0% to 76.9% but increased the sensitivity from 67.2% to 84.5%, compared with the evaluation of ptc-C4d positivity alone for the diagnosis of Banff 2022 AMR. Ten of 19 biopsies (52.6%) with ptc-C4d-negative AMR showed ptc-C4d-negative but GC-C4d-positive AMR.</p><p><strong>Conclusion: </strong>GC-C4d-positive findings in MVI biopsies may reflect active lesions as well as ptc-C4d scoring, while a high GC-C4d score may reflect advanced cg lesions in MVI biopsies with cg0-3. The combined evaluation of GC-C4d and ptc-C4d in MVI biopsies may increase the diagnostic sensitivity for Banff 2022 AMR by reducing the diagnosis of \"C4d-negative AMR.\"</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-9"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775860","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":"A Classification System to Improve Surgical Planning for Vascular Access: Is That Not What We Need?","authors":"Michela Bozzetto, Simona Zerbi","doi":"10.1159/000547629","DOIUrl":"10.1159/000547629","url":null,"abstract":"","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-3"},"PeriodicalIF":1.8,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732400","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":"A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.","authors":"Kanna Shinkawa, Akira Ishii, Taikou Kimura, Naoya Toriu, Naoko Nakagawa, Takahito Wada, Kaoru Sakai, Shuichiro Endo, Hideki Yokoi, Takeshi Matsubara, Kenjiro Kosaki, Shinji Kosugi, Motoko Yanagita","doi":"10.1159/000547625","DOIUrl":"10.1159/000547625","url":null,"abstract":"<p><strong>Introduction: </strong>Renal ciliopathy is a genetic disorder caused by abnormalities in primary cilia. Alström syndrome (AS) is a rare renal ciliopathy caused by mutations in the ALMS1 gene. The diagnostic criteria for AS include symptoms such as vision impairment, obesity, type 2 diabetes, hearing loss, and renal failure. The manifestations of these symptoms vary widely, making the diagnosis of AS difficult.</p><p><strong>Case presentation: </strong>We report the case of a 31-year-old Japanese woman and her 1 year older brother with cone-rod dystrophy (retinal degeneration) and end-stage kidney disease (ESKD), who presented with a clinical course similar to that of AS. Exome sequencing revealed two shared missense variants in ALMS1: c.4334A>T in exon 8 and c.7976C>G in exon 10. In silico analysis suggested that c.4334A>T was likely benign, whereas c.7976C>G was interpreted as a variant of uncertain significance (VUS). A definitive diagnosis of AS could not be made because typical symptoms such as diabetes and obesity were absent. Renal pathological findings in the proband's brother showed tubulointerstitial nephritis and shortening of the proximal tubule cilia, consistent with the known pathological features of AS. The rare and shared clinical features observed in both siblings suggest that VUS is associated with a partial manifestation of AS.</p><p><strong>Conclusion: </strong>Both siblings presented with two rare clinical features, cone-rod dystrophy and ESKD, at a young age and carried the same VUS in ALMS1, suggesting the possibility of a partial AS.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-11"},"PeriodicalIF":1.8,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144732399","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":"Are Your Kidneys OK? Detect Early to Protect Kidney Health.","authors":"Joseph A Vassalotti, Anna Francis, Augusto Cesar Soares Dos Santos, Ricardo Correa-Rotter, Dina Abdellatif, Li-Li Hsiao, Stefanos Roumeliotis, Agnes Haris, Latha A Kumaraswami, Siu-Fai Lui, Alessandro Balducci, Vassilios Liakopoulos","doi":"10.1159/000546636","DOIUrl":"10.1159/000546636","url":null,"abstract":"","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-9"},"PeriodicalIF":1.8,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144637631","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":"A Feasibility Cluster Randomised Control Trial of a Person-Centred Fluid Adherence Intervention for Adults Receiving Haemodialysis.","authors":"Hemamali Jagodage, Ann Bonner, Amanda McGuire, Charrlotte Seib","doi":"10.1159/000546103","DOIUrl":"10.1159/000546103","url":null,"abstract":"<p><strong>Introduction: </strong>Adherence to fluid restriction is an essential component of haemodialysis (HD) self-management, although educational interventions are rarely adjusted to meet a person's health literacy abilities. This study aimed to evaluate the feasibility of a person-centred intervention to improve fluid adherence in adults receiving HD.</p><p><strong>Methods: </strong>A pragmatic, clustered, randomised control feasibility trial involved adults receiving HD for at least 3 months. The control group received standard care while the intervention group received standard care plus a 12-week self-management program that included 4 face-to-face individual teach-back sessions. Randomisation was based on HD treatment shifts. Primary outcomes were acceptability and feasibility (recruitment, retention, and completion rates) and secondary outcomes included patient-reported measures (knowledge, self-efficacy, health literacy, health-related quality of life [HRQoL]) and clinical outcomes (interdialytic weight gain [IDWG] and blood pressure [BP]).</p><p><strong>Results: </strong>The recruitment rate was 53.2% (50/94 screened) with participants (mean age 51 years, SD = 12.52) randomly allocated to intervention (n = 25) and control groups (n = 25). Overall, patient-reported outcome completion rates at baseline and 12 weeks were 88% and 90%, respectively. Retention rates for the intervention and control groups were 96% and 92%, respectively. There were no between group differences at baseline. At 12 weeks, significant improvements were found in the intervention group for knowledge, self-efficacy, health literacy, self-care index, and IDWG, but not HRQoL. The study found mixed results for BP.</p><p><strong>Conclusion: </strong>This intervention was feasible and acceptable to deliver in the clinical setting during HD treatment and has the potential to improve health outcomes for adults on HD.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-16"},"PeriodicalIF":1.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144608899","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":"Recent Advances in Understanding the Pathophysiology of Fabry Disease.","authors":"David G Warnock, Aleš Linhart, Anthony J Bleyer, Stanislav Kmoch","doi":"10.1159/000546085","DOIUrl":"10.1159/000546085","url":null,"abstract":"","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-3"},"PeriodicalIF":1.8,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529009","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":"Expanded View of the Pathophysiology of Fabry Disease.","authors":"Stanislav Kmoch, Martina Živná, Moran Dvela-Levitt, Fabian Braun, Paula Rozenfeld, Christoph Wanner, Derralyn Hughes, Raphael Schiffmann, David G Warnock","doi":"10.1159/000546555","DOIUrl":"10.1159/000546555","url":null,"abstract":"","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-4"},"PeriodicalIF":1.8,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529008","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":"Acute Antibody-Mediated Rejection Associated with Anti-MICA Antibodies in Long-Term Kidney Transplant: A Case Study.","authors":"Hiroaki Yonishi, Tomoko Namba-Hamano, Shigeaki Nakazawa, Kazuaki Yamanaka, Yoichi Kakuta, Hiroki Hashiguchi, Yuki Kawano, Takuya Kubota, Maho Tokuchi, Hiroki Okushima, Shinsuke Sakai, Atsushi Takahashi, Toyofumi Abe, Ryoichi Imamura, Norio Nonomura, Yoshitaka Isaka","doi":"10.1159/000546963","DOIUrl":"10.1159/000546963","url":null,"abstract":"<p><strong>Introduction: </strong>Advances in immunosuppressive therapy have improved kidney transplant outcomes; however, antibody-mediated rejection (ABMR) still affects graft survival. Herein, we present a case of a 46-year-old woman who experienced acute ABMR despite stable long-term graft function following kidney transplantation.</p><p><strong>Case presentation: </strong>At 28 years of age, she underwent a blood-type-compatible living kidney transplant from her father. Eighteen years later, she was admitted to the hospital with a fever and sore throat, raising suspicion of a respiratory infection. Given the rapid deterioration of renal function following hospitalisation, a biopsy was conducted. The findings showed diffuse glomerulitis and peritubular capillaritis, along with focal observations of endoarteritis, glomerular thrombi, and interstitial haemorrhage, consistent with active ABMR. She was treated with methylprednisolone pulse therapy and intravenous immunoglobulin, which induced gradual recovery. Screening tests for anti-human leucocyte antigen (HLA) antibodies yielded negative results. However, tests for non-HLA antibodies detected the presence of anti-major histocompatibility complex class I chain-related gene A (MICA) antibodies in the blood sample prior to the onset of rejection. Notably, at the time of rejection, anti-MICA antibodies were not detectable in the blood; nevertheless, they were subsequently found to be positive 10 months later. These antibodies may have been sequestered within tissues, rendering them undetectable in the bloodstream.</p><p><strong>Conclusion: </strong>Anti-MICA antibodies have previously been implicated in ABMR; however, this case highlights their role in late-onset rejection after prolonged graft stability. This case underscores the importance of non-HLA donor-specific antibody tests when ABMR occurs in a recipient lacking anti-HLA antibodies.</p>","PeriodicalId":18998,"journal":{"name":"Nephron","volume":" ","pages":"1-6"},"PeriodicalIF":2.3,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144485245","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}