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FSGS Recurrence Collaboration: Report of a symposium FSGS复发合作:研讨会报告
Pub Date : 2023-11-14 DOI: 10.1159/000535138
Debbie S. Gipson, Chia-shi Wang, Eloise Salmon, Rasheed Gbadegesin, Abhijit Naik, Simone Sanna-Cherchi, Alessia Fornoni, Matthias Kretzler, Sandra Merscher, Paul Hoover, Kelley Kidwell, Moin Saleem, Leonardo Riella, Lawrence Holzman, Annette Jackson, Opeyemi Olabisi, Paolo Cravedi, Benjamin Solomon Freedman, Jonathan Himmelfarb, Marina Vivarelli, Jennifer Harder, Jon Klein, George Burke, Michelle Rheault, Cathie Spino, Hailey E. Desmond, Howard Trachtman
Since it was first described more than 50 years ago, recurrence of FSGS in kidney allografts has frustrated the transplant community. This rare condition is associated with considerable morbidity, and it is the most common cause of graft loss in patients with CKD stage 5 due to FSGS. However, the problem remains insufficiently studied. It is an ultra-orphan disease and incidence rates at individual centers are often very low and unpredictable. The published literature contains conflicting reports in basic epidemiologic data. Progress in defining the mechanisms of disease and advancing therapeutic options has been limited. The treatment options that are currently available are limited and largely ineffective. The range in time to recurrence and variability in responsiveness to treatment suggest that recurrence is not a single entity, but rather multiple phenotypes resulting from diverse pathogenetic mechanisms grouped under a larger umbrella. There is an urgent need for innovative basic science and translational research to [1] better understand FSGS recurrence from a mechanistic perspective; [2] improve risk stratification to predict this outcome; and [3] develop effective therapies. In this conference report, we describe the work of investigators whose state-of-the-art research paves the way for innovative approaches to diagnosis and treatment of the problem and provides hope that we can achieve these objectives for affected patients.
自50多年前首次被描述以来,同种异体肾脏移植中FSGS的复发一直令移植界感到沮丧。这种罕见的情况与相当高的发病率相关,并且是由于FSGS导致CKD 5期患者移植物丢失的最常见原因。然而,这个问题仍然没有得到充分的研究。这是一种罕见的疾病,个别中心的发病率通常很低,而且难以预测。已发表的文献在基本流行病学数据中包含相互矛盾的报告。在确定疾病机制和推进治疗方案方面的进展有限。目前可用的治疗方案有限,而且大多无效。复发的时间范围和对治疗反应的可变性表明,复发不是一个单一的实体,而是由不同的发病机制引起的多种表型,在一个更大的保护伞下。迫切需要创新的基础科学和转化研究[1],以便从机制角度更好地理解FSGS复发;[2]改善风险分层以预测这一结果;并[3]开发有效的治疗方法。在这份会议报告中,我们描述了研究人员的工作,他们最先进的研究为诊断和治疗问题的创新方法铺平了道路,并为受影响的患者实现这些目标提供了希望。
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引用次数: 0
Combing Genome-Wide Association Studies and Single-Cell Analysis to Elucidate the Mechanisms of Kidney Disease: Proceedings of the Henry Shavelle Professorhip 结合全基因组关联研究和单细胞分析阐明肾脏疾病的机制:Henry Shavelle教授学位论文集
Pub Date : 2023-10-30 DOI: 10.1159/000534678
Jonathan Levinsohn, Shen Li, Eunji Ha, Katalin Susztak
Background: Kidney diseases pose a significant global health burden, there is an urgent need to deepen our understanding of their underlying mechanisms. Summary: This review focuses on new innovative approaches that merge Genome-Wide Association Studies (GWAS) and single-cell omics (including transcriptomics) in kidney disease research. We begin by detailing how GWAS have identified numerous genetic risk factors, offering valuable insight into disease susceptibility. Then, we explore the application of scRNA-seq, highlighting its ability to unravel how genetic variants influence cellular phenotypes. Through a synthesis of recent studies, we illuminate the synergy between these two powerful methodologies, demonstrating their potential in elucidating the complex etiology of kidney diseases. Moreover, we discuss how this integrative approach could pave the way for precise diagnostics and personalized treatments. Key Message: This review underscores the transformative potential of combining GWAS and scRNA-seq in the journey towards a deeper understanding of kidney diseases.
背景:肾脏疾病是一个重大的全球健康负担,迫切需要加深我们对其潜在机制的理解。摘要:本文综述了将全基因组关联研究(GWAS)和单细胞组学(包括转录组学)结合在肾脏疾病研究中的创新方法。我们首先详细介绍GWAS如何识别许多遗传风险因素,为疾病易感性提供有价值的见解。然后,我们探索了scRNA-seq的应用,强调了其揭示遗传变异如何影响细胞表型的能力。通过对近期研究的综合,我们阐明了这两种强大方法之间的协同作用,展示了它们在阐明肾脏疾病复杂病因学方面的潜力。此外,我们还讨论了这种综合方法如何为精确诊断和个性化治疗铺平道路。关键信息:本综述强调了GWAS和scRNA-seq结合在深入了解肾脏疾病的过程中的变革潜力。
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引用次数: 0
Longitudinal Analysis of Prophylactic Anticoagulation in Primary Nephrotic Syndrome: Low Incidence of Thromboembolic Complications 原发性肾病综合征预防性抗凝治疗的纵向分析:血栓栓塞并发症的低发生率
Pub Date : 2023-10-30 DOI: 10.1159/000534652
Thomas McDonnell, John Hartemink, Omar Ragy, Kathrine Parker, Meshaal Shukkur, Jecko Thachil, Durga Kanigicherla
Introduction Thromboembolic events (TEEs) are a serious and potentially fatal complication of nephrotic syndrome (NS). Despite this there is a lack of evidence examining the benefits of prophylactic anticoagulation (PAC) in NS. It was our objective to review the risk factors, rates of TEEs and patterns of PAC in patients with primary NS, with the aim to provide a pragmatic approach to PAC in primary NS. Methods This is a retrospective longitudinal cohort study of adult patients with primary NS. Included were: biopsy proven Minimal Change Disease and Focal Segmental Glomerulosclerosis (described as a combined podocytopathy cohort) plus Membranous Nephropathy (MN) over an 8-year period from a single centre. Anticoagulation practice, TEEs and longer-term outcomes were recorded. Results 54 patients with MN and 48 with podocytopathies were included. Baseline demographics and severity of NS was comparable. Those with MN were more likely to develop TEE 12(22%) vs 4(8%) (p=0.027) though this difference was predominantly seen at index diagnosis. Only 2 patients developed TEEs during active incident nephrotic syndrome. Rates of PAC were similar comparing MN (53%) and podocytopathies (58%). Those with a serum albumin < 20 g/L and HAS BLED score <3 were most likely to receive PAC (22/30, 73% in MN vs 21/30, 70% in iNS). Warfarin was the most common agent used in MN cohort 18/26 (69%) vs prophylactic dose low molecular weight heparin in the podocytopathy cohort 12/28 (43%). Discussion/Conclusion PAC practices applied in this cohort of patients were pragmatic and effective, with low TEE rates during active nephrotic syndrome.
血栓栓塞事件(tee)是肾病综合征(NS)的一种严重且可能致命的并发症。尽管如此,仍缺乏证据证明预防性抗凝(PAC)对NS的益处。我们的目的是回顾原发性NS患者的危险因素、tee的发生率和PAC的模式,旨在为原发性NS患者的PAC提供实用的方法。方法:回顾性纵向队列研究,研究对象为原发性NS的成年患者。包括:活检证实的最小改变疾病和局灶节段性肾小球硬化(被描述为联合足细胞病队列)加上膜性肾病(MN),来自单一中心,时间超过8年。记录抗凝实践、tee和长期预后。结果54例MN患者,48例足细胞病变患者。基线人口统计学和NS严重程度具有可比性。MN患者更有可能发展为TEE 12(22%) vs 4(8%) (p=0.027),尽管这种差异主要见于指数诊断。只有2例患者在活动性偶发肾病综合征期间发生tee。PAC的发生率与MN(53%)和足细胞病变(58%)相似。血清白蛋白阳性者;20 g/L和HAS BLED评分为lt;3的患者最有可能接受PAC (MN为22/ 30,73%,iNS为21/ 30,70%)。在MN队列18/26(69%)中,华法林是最常用的药物,而在足细胞病变队列12/28(43%)中,预防剂量低分子量肝素是最常用的药物。讨论/结论在该队列患者中应用PAC实践是实用和有效的,活动性肾病综合征期间TEE发生率低。
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引用次数: 0
CureGN Pathology Classification and Core Scoring Criteria, Reproducibility, and Clinicopathologic Correlations CureGN病理分类和核心评分标准、可重复性和临床病理相关性
Pub Date : 2023-10-26 DOI: 10.1159/000534755
Matthew B Palmer, Virginie Royal, J. Charles Jennette, Abigail R. Smith, Qian Liu, Josephine M. Ambruzs, Nicole K. Andeen, Vivette D. D’Agati, Agnes B. Fogo, Joseph Gaut, Rasheed A. Gbadegesin, Larry A. Greenbaum, Jean Hou, Margaret E Helmuth, Richard A. Lafayette, Helen Liapis, Bruce Robinson, Michael B. Stokes, Katherine Twombley, Hong Yin, Cynthia C. Nast
Introduction: CureGN is an observational cohort study of patients with minimal change disease (MCD), focal segmental glomerulosclerosis (FSGS), membranous nephropathy (MN), or IgA nephropathy (IgAN). We developed a conventional, consensus-based scoring system to document pathologic features for application across multiple pathologists and herein describe the protocol, reproducibility and correlation with clinical parameters at biopsy. Methods: Definitions were established for glomerular, tubular, interstitial and vascular lesions evaluated semi-quantitatively using digitized light microscopy slides and electron micrographs, and reported immunofluorescence. Cases with curated pathology materials as of April 2019 were scored by a randomly assigned pathologist, with at least 10% of cases scored by a second pathologist. Scoring reproducibility was assessed using Gwet’s AC1 statistic and correlations with clinical variables were performed. Results: Of 800 scored biopsies (143 MCD, 185 FSGS, 206 MN, 266 IgA), 94 were scored twice (11.8%). Of 60 pathology features, 46 (76.7%) demonstrated excellent (AC1>0.8), and 12 (20.0%) had good (AC1 0.6-0.8) reproducibility. Mesangial hypercellularity scored as absent, focal or diffuse had moderate reproducibility (AC1=0.58), but good reproducibility (ACI=0.71) when scored as absent or focal vs diffuse. The percent glomeruli scored as no lesions had fair reproducibility (AC1=0.34). Strongest correlations between pathologic features and clinical characteristics at biopsy included interstitial inflammation, interstitial fibrosis and tubular atrophy with eGFR, foot process effacement with UPCR, and active crescents with hematuria. Conclusions: Most scored pathology features showed excellent reproducibility, demonstrating consistency for these features across multiple pathologists. Correlations between certain pathologic features and expected clinical characteristics show the value of this approach for future studies on clinicopathologic correlations and biomarker discovery.
CureGN是一项针对微小变化疾病(MCD)、局灶节段性肾小球硬化(FSGS)、膜性肾病(MN)或IgA肾病(IgAN)患者的观察性队列研究。我们开发了一种传统的、基于共识的评分系统来记录病理特征,以供多名病理学家应用,并在此描述该方案、可重复性以及与活检临床参数的相关性。方法:采用数字化光镜载玻片和电子显微镜半定量评估肾小球、小管、间质和血管病变的定义,并报告免疫荧光。截至2019年4月,具有精心策划的病理材料的病例由随机分配的病理学家评分,其中至少10%的病例由第二名病理学家评分。采用Gwet的AC1统计量评估评分的可重复性,并与临床变量进行相关性分析。结果:800例活检中(MCD 143例,FSGS 185例,MN 206例,IgA 266例),94例(11.8%)进行两次活检。60个病理特征中,46个(76.7%)表现为优秀(AC1>0.8), 12个(20.0%)表现为良好(AC1 0.6 ~ 0.8)。系膜高细胞性评分为缺失、局灶性或弥漫性时,再现性中等(AC1=0.58),但当系膜高细胞性评分为缺失或局灶性与弥漫性时,再现性良好(ACI=0.71)。无病变肾小球的百分率具有良好的可重复性(AC1=0.34)。活检病理特征和临床特征之间相关性最强的包括间质炎症、间质纤维化和肾小管萎缩伴eGFR,足突消退伴UPCR,活动性月牙伴血尿。结论:大多数评分的病理特征具有良好的可重复性,证明了这些特征在多个病理学家之间的一致性。某些病理特征与预期临床特征之间的相关性显示了该方法对未来临床病理相关性研究和生物标志物发现的价值。
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引用次数: 0
Clinical profile and renal survival of anti-glomerular basement membrane disease patients– A retrospective case-series from Northern India 抗肾小球基底膜病患者的临床特征和肾生存-印度北部回顾性病例系列
Pub Date : 2023-10-17 DOI: 10.1159/000534498
Asheesh Kumar, Samriti Gupta, Kush Dev Singh Jarial, Sukhwinder Sangha, Ashish Chauhan, Vikas Sharma, Rajeev Sandal, Dheeraj Sharma
Abstract: Introduction: Anti-glomerular basement membrane (anti-GBM) disease is a rare organ-specific autoimmune disease. The overall and renal outcomes of patients have mostly been reported in small-sized cohorts. We aimed to study the clinical profile, overall and renal survival of anti-glomerular basement membrane disease patients at our center. Methods: We conducted a retrospective analysis of the data regarding the clinical profile and renal survival of patients diagnosed with anti-GBM disease from October 2019 and March 2022, having a minimum follow-up of 12 months. Results: There were 15 patients in the study, with the mean age of presentation being 51.6±13.7 years. The median duration of symptoms onset to nephrologist opinion was 15 (10-23) days. The extrarenal manifestations were seen in the respiratory, otorhinolaryngological, and neurological systems. The mean serum anti-GBM titers were 154.5 (14.9-263.5) U/ml. Serum anti-GBM titers were present in 13/15(86.6%) patients, and 12/13 (92.3%) patients had above the reference range. ANCA levels were assessed in 12/15 (80%) patients, and 9/12 (75%) had higher levels. Renal biopsy was available in 14 patients with more than 50% crescents. Along with crescents, necrotizing lesions, rupture of the Bowman’s capsule, and granulomatous lesions were also seen. Among the initial therapy, steroid pulse was given in 13 (86.6%) patients, whereas membrane plasmapheresis was given in 8 (53.3%) patients. Inj. Cyclophosphamide and Inj. Rituximab were given in 8 (53.3%) and 4 (26.6%) patients, respectively. No difference was seen in clinical characteristics, renal biopsy features, treatment received, and outcomes with ANCA positivity except for age, where patients who were ANCA positive were older compared to patients who were ANCA negative. One-year renal and patient survival was seen in 4 (26.6%) and 6 (40%) patients, respectively. Conclusion: Most patients of anti-GBM disease have active sediments, raised creatinine, and non-specific symptomatology. There is poor renal and patient outcome as most patients present with advanced renal failure.
摘要:简介:抗肾小球基底膜病(anti-GBM)是一种罕见的器官特异性自身免疫性疾病。患者的总体和肾脏预后大多在小规模队列中报道。我们的目的是研究本中心抗肾小球基底膜病患者的临床概况、总体和肾脏生存。方法:回顾性分析2019年10月至2022年3月诊断为抗gbm疾病的患者的临床概况和肾脏生存数据,随访时间至少为12个月。结果:本组患者15例,平均发病年龄51.6±13.7岁。肾病专家认为症状出现的中位持续时间为15(10-23)天。外表现见于呼吸系统、耳鼻喉科和神经系统。血清抗gbm滴度平均值为154.5 (14.9 ~ 263.5)U/ml。13/15(86.6%)患者血清抗gbm滴度高于参考范围,12/13(92.3%)患者血清抗gbm滴度高于参考范围。评估了12/15(80%)患者的ANCA水平,9/12(75%)患者的ANCA水平较高。14例月牙形病变超过50%的患者行肾活检。随着月牙,坏死性病变,鲍曼囊破裂,肉芽肿病变也可见。在初始治疗中,13例(86.6%)患者接受类固醇脉冲治疗,8例(53.3%)患者接受膜血浆置换治疗。Inj。环磷酰胺和注射剂。给予利妥昔单抗的患者分别为8例(53.3%)和4例(26.6%)。临床特征、肾活检特征、接受的治疗和ANCA阳性的结果没有差异,除了年龄,ANCA阳性的患者比ANCA阴性的患者年龄大。1年肾脏和患者生存率分别为4例(26.6%)和6例(40%)。结论:抗gbm患者多有活性沉积物、肌酐升高、无特异性症状。由于大多数患者表现为晚期肾衰竭,肾脏和患者预后较差。
{"title":"Clinical profile and renal survival of anti-glomerular basement membrane disease patients– A retrospective case-series from Northern India","authors":"Asheesh Kumar, Samriti Gupta, Kush Dev Singh Jarial, Sukhwinder Sangha, Ashish Chauhan, Vikas Sharma, Rajeev Sandal, Dheeraj Sharma","doi":"10.1159/000534498","DOIUrl":"https://doi.org/10.1159/000534498","url":null,"abstract":"Abstract: Introduction: Anti-glomerular basement membrane (anti-GBM) disease is a rare organ-specific autoimmune disease. The overall and renal outcomes of patients have mostly been reported in small-sized cohorts. We aimed to study the clinical profile, overall and renal survival of anti-glomerular basement membrane disease patients at our center. Methods: We conducted a retrospective analysis of the data regarding the clinical profile and renal survival of patients diagnosed with anti-GBM disease from October 2019 and March 2022, having a minimum follow-up of 12 months. Results: There were 15 patients in the study, with the mean age of presentation being 51.6±13.7 years. The median duration of symptoms onset to nephrologist opinion was 15 (10-23) days. The extrarenal manifestations were seen in the respiratory, otorhinolaryngological, and neurological systems. The mean serum anti-GBM titers were 154.5 (14.9-263.5) U/ml. Serum anti-GBM titers were present in 13/15(86.6%) patients, and 12/13 (92.3%) patients had above the reference range. ANCA levels were assessed in 12/15 (80%) patients, and 9/12 (75%) had higher levels. Renal biopsy was available in 14 patients with more than 50% crescents. Along with crescents, necrotizing lesions, rupture of the Bowman’s capsule, and granulomatous lesions were also seen. Among the initial therapy, steroid pulse was given in 13 (86.6%) patients, whereas membrane plasmapheresis was given in 8 (53.3%) patients. Inj. Cyclophosphamide and Inj. Rituximab were given in 8 (53.3%) and 4 (26.6%) patients, respectively. No difference was seen in clinical characteristics, renal biopsy features, treatment received, and outcomes with ANCA positivity except for age, where patients who were ANCA positive were older compared to patients who were ANCA negative. One-year renal and patient survival was seen in 4 (26.6%) and 6 (40%) patients, respectively. Conclusion: Most patients of anti-GBM disease have active sediments, raised creatinine, and non-specific symptomatology. There is poor renal and patient outcome as most patients present with advanced renal failure.","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135993767","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}
引用次数: 0
The International Society of Glomerular Disease: Building the Future of Glomerular Medicine. 国际肾小球疾病学会:建设肾小球医学的未来。
Pub Date : 2023-10-10 eCollection Date: 2023-01-01 DOI: 10.1159/000534536
Laurel J Damashek, Sharon G Adler, Joshua M Tarnoff, Tobias B Huber
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引用次数: 0
Kidney Biopsy Findings and Clinical Outcomes of US Veterans with Inflammatory Bowel Disease. 美国退伍军人炎症性肠病的肾脏活检结果和临床结果。
Pub Date : 2023-09-30 eCollection Date: 2023-01-01 DOI: 10.1159/000534062
Prasanth Ravipati, Scott Reule, Alyssa Bren, Lihong Bu, Byron P Vaughn, Patrick H Nachman

Introduction: Patients with inflammatory bowel disease (IBD; ulcerative colitis [UC] and Crohn's disease [CD]) may have unique patterns of kidney injury related to their underlying or coexisting disease or to medications. We present the kidney biopsy findings and clinical outcomes of veterans with UC or CD from the US Department of Veteran's Affairs (VA) health system.

Methods: Histopathologic and clinical data were extracted by retrospective review of the VA electronic health record of patients with IBD and a kidney biopsy between 2000 and 2018. Incident end-stage kidney disease (ESKD) was defined as requirement of kidney replacement therapy. Statistical analyses were performed using SAS.

Results: A total of 140 patients (UC: 91 and CD: 49) underwent kidney biopsy. The three most common diagnoses were IgA nephropathy (17.1%), diabetic nephropathy (14.3%), and acute interstitial nephritis (9.3%). Significant interstitial fibrosis, tubular atrophy, and arteriosclerosis were present in 45% of biopsies. Twenty-six percent of patients with UC and 20% of those with CD progressed to ESKD, with a mean time from kidney biopsy of 3.1 and 1.9 years, respectively. Forty-five percent of patients with UC and 34% of those with CD died, with a mean time from kidney biopsy of 4.3 and 4.6 years, respectively.

Conclusion: Among US veterans with IBD who underwent a kidney biopsy, IgA nephropathy, diabetic nephropathy, and interstitial nephritis were among the most common findings. Additionally, features of advanced kidney disease with rapid clinical progression to ESKD or death were observed. These findings suggest a delay and possibly a low rate of diagnosis.

引言:炎症性肠病(IBD、溃疡性结肠炎和克罗恩病)患者可能有独特的肾损伤模式,这与其潜在或共存的疾病或药物有关。我们介绍了来自美国退伍军人事务部(VA)卫生系统的UC或CD退伍军人的肾活检结果和临床结果。方法:通过回顾性回顾2000年至2018年间IBD患者的VA电子健康记录和肾活检,提取组织病理学和临床数据。偶发性终末期肾病(ESKD)被定义为肾脏替代治疗的需要。结果:共有140例患者(UC:91例,CD:49例)接受了肾活检。三种最常见的诊断是IgA肾病(17.1%)、糖尿病肾病(14.3%)和急性间质性肾炎(9.3%)。45%的活检中存在显著的间质纤维化、肾小管萎缩和动脉硬化。26%的UC患者和20%的CD患者进展为ESKD,从肾活检开始的平均时间分别为3.1年和1.9年。45%的UC患者和34%的CD患者死亡,肾活检的平均时间分别为4.3年和4.6年。结论:在接受肾活检的美国IBD退伍军人中,IgA肾病、糖尿病肾病和间质性肾炎是最常见的表现。此外,观察到晚期肾脏疾病的特征,其临床进展迅速至ESKD或死亡。这些发现表明诊断延迟,可能诊断率较低。
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引用次数: 0
Relationships among Non-Neoplastic Histopathological Features, Kidney Function, Proteinuria, and Other Clinical Factors in Patients Undergoing Nephrectomy. 肾切除患者的非肿瘤组织病理学特征、肾功能、蛋白尿和其他临床因素之间的关系。
Pub Date : 2023-09-30 eCollection Date: 2023-01-01 DOI: 10.1159/000534339
Laura Aponte Becerra, Juan D Salcedo Betancourt, Tali Elfassy, Oleksii Iakymenko, David B Thomas, Farid Isaac, Alessia Fornoni, Yiqin Zuo, Laura Barisoni, Gabriel Contreras, Jair Munoz Mendoza

Introduction: The non-neoplastic kidney parenchyma from nephrectomies is often overlooked in routine examinations. We aimed to evaluate the associations between global glomerulosclerosis (GS), interstitial fibrosis (IF), or arteriosclerosis (AS) and estimated glomerular filtration rate (eGFR), dipstick proteinuria, and other clinical factors.

Methods: We performed a cross-sectional analysis of 781 patients with nephrectomy. We used regression models with and without interaction factors. The tested exposures were GS, IF, or AS, and the outcome measures were GFR and dipstick proteinuria.

Results: In multivariable analyses, increasing degrees of GS, IF, or AS were significantly associated with lower eGFR and proteinuria (p < 0.05 for each). Obesity and hypertension (HTN) modified the association between eGFR and degrees of GS, whereas proteinuria and cardiovascular disease (CVD) modified the association between eGFR and degrees of AS (p for interaction <0.05). Compared with GS <10%, GS >50% was associated with lower eGFR in patients with (-45 mL/min/1.73 m2) than without (-19 mL/min/1.73 m2) obesity, and GS >50% was associated with lower eGFR in patients with (-31 mL/min/1.73 m2) than without (-16 mL/min/1.73 m2) HTN. Compared with AS <26%, AS >50% was associated with lower eGFR in patients with (-11 mL/min/1.73 m2) than without (-6 mL/min/1.73 m2) proteinuria, and AS >50% was associated with lower eGFR in patients with (-23 mL/min/1.73 m2) than without (-7 mL/min/1.73 m2) CVD.

Conclusion: Greater degrees of each GS, IF, and AS are independently associated with proteinuria and lower eGFR. Obesity, HTN, proteinuria, and CVD modify the relationship between eGFR and specific histopathological features of nephrosclerosis.

引言:肾切除术后的非肿瘤性肾实质在常规检查中经常被忽视。我们旨在评估肾小球硬化(GS)、间质纤维化(IF)或动脉硬化(AS)与估计肾小球滤过率(eGFR)、量尺蛋白尿和其他临床因素之间的关系。方法:我们对781例肾切除术患者进行了横断面分析。我们使用了包含和不包含交互因素的回归模型。测试的暴露量为GS、IF或AS,结果指标为GFR和量尺蛋白尿。结果:在多变量分析中,GS、IF或AS的增加程度与eGFR和蛋白尿的降低显著相关(各p<0.05)。肥胖和高血压(HTN)改变了eGFR与GS程度之间的相关性,而蛋白尿和心血管疾病(CVD,GS>50%与患有(-31 mL/min/1.73 m2)HTN的患者的eGFR低于不患有(-16 mL/min/1.76 m2)HTN的患者相关。与AS相比,患有(-11 mL/min/1.73 m2)蛋白尿的患者中50%与eGFR较低相关,而患有(-23 mL/min/1.76 m2)CVD的患者中AS>50%与eGFR较低相关。肥胖、HTN、蛋白尿和CVD改变了eGFR与肾硬化症特定组织病理学特征之间的关系。
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引用次数: 0
Kidney Biopsy Corner: Amyloidosis. 肾脏活检角:淀粉样变性。
Pub Date : 2023-09-08 eCollection Date: 2023-01-01 DOI: 10.1159/000533195
Laura E Biederman, Alana D Dasgupta, Darren E Dreyfus, Tibor Nadasdy, Anjali A Satoskar, Sergey V Brodsky

Amyloidosis is an infiltrative disease caused by misfolded proteins depositing in tissues. Amyloid infiltrates the kidney in several patterns. There are, as currently described by the International Society of Amyloidosis, 14 types of amyloid that can involve the kidney, and these types may have different locations or clinical settings. Herein we report a case of AA amyloidosis occurring in a 24-year-old male with a history of intravenous drug abuse and provide a comprehensive review of different types of amyloids involving the kidney.

淀粉样变性是一种由错误折叠的蛋白质沉积在组织中引起的浸润性疾病。淀粉样蛋白以几种方式浸润肾脏。正如国际淀粉样变性学会目前所描述的,有14种类型的淀粉样蛋白可能涉及肾脏,这些类型可能有不同的位置或临床环境。在此,我们报告了一例AA淀粉样变性病例,该病例发生在一名有静脉注射药物滥用史的24岁男性身上,并对涉及肾脏的不同类型的淀粉样变性进行了全面综述。
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引用次数: 0
Assessment of the Needs of Nephrology Divisions to Implement Return of Clinically Significant Research Genetic Results: A Survey of Nephrotic Syndrome Study Network (NEPTUNE) Investigators. 评估肾病科实施临床重要研究遗传学结果返回的需求:肾病综合征研究网络(NEPTUNE)调查人员的调查。
Pub Date : 2023-08-21 eCollection Date: 2023-01-01 DOI: 10.1159/000533501
Jennifer E Fishbein, Loryn Wilson Dass, Chrysta Lienczewski, Matthias Kretzler, Rasheed A Gbadegesin, J Scott Roberts, Matthew G Sampson, Wendy R Uhlmann

Introduction: There is an increasing need to return genetic testing results to patients with kidney disease who were first genotyped on a research basis. Operationalizing this process in nephrology clinics is challenged by a limited number of genetic providers with whom to partner and a general lack of support services for all clinicians.

Methods: We administered a survey in March 2022 to assess the current ability and ongoing needs of nephrology divisions to return clinically significant research genetic results to patients and to implement clinical genetic testing. This survey was distributed to institutions within the Nephrotic Syndrome Study Network (NEPTUNE) as part of the planning process for return of research genetic results to participants with pathogenic variants in Mendelian nephrotic syndrome genes.

Results: Twenty-seven of 28 sites (96%) completed the survey. 59% (n = 16) of sites said they could handle return of research genetic results independently, with the rest expressing hesitation about the volume and complexity of patients and the limited resources and access to genetics services. 81% (n = 22) of these institutions did have a genetics clinic and 26% (n = 7) have a nephrology genetics clinic. However, 70% (n = 10) of these clinics have a waiting time over 1 month. 89% of divisions (n = 24) were conducting genetic testing and 96% of those (n = 23) used a kidney multi-gene panel. In 46% of divisions (n = 11), nephrologists were handling logistics of obtaining genetic testing samples themselves.

Conclusion: We identified specific areas of support needed for return of clinically significant genetic results from research studies. While the surveyed nephrologists were conducting genetic testing, there were limitations in the support services available. This survey will help guide other research studies that wish to return genetic results to participants and also highlight the need for increasing support to effectively operationalize genetic testing in nephrology clinics.

引言:越来越需要将基因检测结果返回给首次在研究基础上进行基因分型的肾病患者。在肾脏病诊所实施这一过程面临着挑战,因为与之合作的基因提供者数量有限,而且普遍缺乏对所有临床医生的支持服务。方法:我们在2022年3月进行了一项调查,以评估肾脏科目前向患者返回具有临床意义的研究基因结果并实施临床基因检测的能力和持续需求。这项调查被分发给肾病综合征研究网络(NEPTUNE)内的机构,作为将研究遗传结果返回给孟德尔肾病综合征基因致病变异参与者的计划过程的一部分。结果:28个地点中有27个(96%)完成了调查。59%(n=16)的研究点表示,他们可以独立处理研究遗传结果的返回,其余的研究点对患者的数量和复杂性以及有限的资源和获得遗传服务的机会表示犹豫。这些机构中81%(n=22)确实有遗传学诊所,26%(n=7)有肾病遗传学诊所。然而,这些诊所中70%(n=10)的等待时间超过1个月。89%的部门(n=24)正在进行基因检测,96%的部门(n=23)使用肾脏多基因小组。在46%的科室(n=11)中,肾脏科医生自己负责获取基因检测样本的后勤工作。结论:我们确定了从研究中返回具有临床意义的遗传结果所需的特定支持领域。虽然接受调查的肾脏病学家正在进行基因检测,但现有的支持服务存在局限性。这项调查将有助于指导其他希望向参与者返回基因结果的研究,并强调需要增加支持,以在肾脏病诊所有效实施基因检测。
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Glomerular diseases
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