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
{"title":"FSGS Recurrence Collaboration: Report of a symposium","authors":"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","doi":"10.1159/000535138","DOIUrl":"https://doi.org/10.1159/000535138","url":null,"abstract":"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.","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"9 6","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134956846","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}
Jonathan Levinsohn, Shen Li, Eunji Ha, Katalin Susztak
{"title":"Combing Genome-Wide Association Studies and Single-Cell Analysis to Elucidate the Mechanisms of Kidney Disease: Proceedings of the Henry Shavelle Professorhip","authors":"Jonathan Levinsohn, Shen Li, Eunji Ha, Katalin Susztak","doi":"10.1159/000534678","DOIUrl":"https://doi.org/10.1159/000534678","url":null,"abstract":"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.","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"17 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136105014","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}
Thomas McDonnell, John Hartemink, Omar Ragy, Kathrine Parker, Meshaal Shukkur, Jecko Thachil, Durga Kanigicherla
{"title":"Longitudinal Analysis of Prophylactic Anticoagulation in Primary Nephrotic Syndrome: Low Incidence of Thromboembolic Complications","authors":"Thomas McDonnell, John Hartemink, Omar Ragy, Kathrine Parker, Meshaal Shukkur, Jecko Thachil, Durga Kanigicherla","doi":"10.1159/000534652","DOIUrl":"https://doi.org/10.1159/000534652","url":null,"abstract":"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.","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136104243","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}
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
{"title":"CureGN Pathology Classification and Core Scoring Criteria, Reproducibility, and Clinicopathologic Correlations","authors":"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","doi":"10.1159/000534755","DOIUrl":"https://doi.org/10.1159/000534755","url":null,"abstract":"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.","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"55 12","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136377123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"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}
Glomerular diseasesPub Date : 2023-10-10eCollection Date: 2023-01-01DOI: 10.1159/000534536
Laurel J Damashek, Sharon G Adler, Joshua M Tarnoff, Tobias B Huber
{"title":"The International Society of Glomerular Disease: Building the Future of Glomerular Medicine.","authors":"Laurel J Damashek, Sharon G Adler, Joshua M Tarnoff, Tobias B Huber","doi":"10.1159/000534536","DOIUrl":"https://doi.org/10.1159/000534536","url":null,"abstract":"","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"230-232"},"PeriodicalIF":0.0,"publicationDate":"2023-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Glomerular diseasesPub Date : 2023-09-30eCollection Date: 2023-01-01DOI: 10.1159/000534062
Prasanth Ravipati, Scott Reule, Alyssa Bren, Lihong Bu, Byron P Vaughn, Patrick H Nachman
{"title":"Kidney Biopsy Findings and Clinical Outcomes of US Veterans with Inflammatory Bowel Disease.","authors":"Prasanth Ravipati, Scott Reule, Alyssa Bren, Lihong Bu, Byron P Vaughn, Patrick H Nachman","doi":"10.1159/000534062","DOIUrl":"https://doi.org/10.1159/000534062","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"233-240"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616669/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Glomerular diseasesPub Date : 2023-09-30eCollection Date: 2023-01-01DOI: 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
{"title":"Relationships among Non-Neoplastic Histopathological Features, Kidney Function, Proteinuria, and Other Clinical Factors in Patients Undergoing Nephrectomy.","authors":"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","doi":"10.1159/000534339","DOIUrl":"10.1159/000534339","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>In multivariable analyses, increasing degrees of GS, IF, or AS were significantly associated with lower eGFR and proteinuria (<i>p</i> < 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 (<i>p</i> for interaction <0.05). Compared with GS <10%, GS >50% was associated with lower eGFR in patients with (-45 mL/min/1.73 m<sup>2</sup>) than without (-19 mL/min/1.73 m<sup>2</sup>) obesity, and GS >50% was associated with lower eGFR in patients with (-31 mL/min/1.73 m<sup>2</sup>) than without (-16 mL/min/1.73 m<sup>2</sup>) HTN. Compared with AS <26%, AS >50% was associated with lower eGFR in patients with (-11 mL/min/1.73 m<sup>2</sup>) than without (-6 mL/min/1.73 m<sup>2</sup>) proteinuria, and AS >50% was associated with lower eGFR in patients with (-23 mL/min/1.73 m<sup>2</sup>) than without (-7 mL/min/1.73 m<sup>2</sup>) CVD.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"220-229"},"PeriodicalIF":0.0,"publicationDate":"2023-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10616670/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Glomerular diseasesPub Date : 2023-09-08eCollection Date: 2023-01-01DOI: 10.1159/000533195
Laura E Biederman, Alana D Dasgupta, Darren E Dreyfus, Tibor Nadasdy, Anjali A Satoskar, Sergey V Brodsky
{"title":"Kidney Biopsy Corner: Amyloidosis.","authors":"Laura E Biederman, Alana D Dasgupta, Darren E Dreyfus, Tibor Nadasdy, Anjali A Satoskar, Sergey V Brodsky","doi":"10.1159/000533195","DOIUrl":"10.1159/000533195","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"165-177"},"PeriodicalIF":0.0,"publicationDate":"2023-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71415792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Glomerular diseasesPub Date : 2023-08-21eCollection Date: 2023-01-01DOI: 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
{"title":"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.","authors":"Jennifer E Fishbein, Loryn Wilson Dass, Chrysta Lienczewski, Matthias Kretzler, Rasheed A Gbadegesin, J Scott Roberts, Matthew G Sampson, Wendy R Uhlmann","doi":"10.1159/000533501","DOIUrl":"10.1159/000533501","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>Twenty-seven of 28 sites (96%) completed the survey. 59% (<i>n</i> = 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% (<i>n</i> = 22) of these institutions did have a genetics clinic and 26% (<i>n</i> = 7) have a nephrology genetics clinic. However, 70% (<i>n</i> = 10) of these clinics have a waiting time over 1 month. 89% of divisions (<i>n</i> = 24) were conducting genetic testing and 96% of those (<i>n</i> = 23) used a kidney multi-gene panel. In 46% of divisions (<i>n</i> = 11), nephrologists were handling logistics of obtaining genetic testing samples themselves.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":73177,"journal":{"name":"Glomerular diseases","volume":"3 1","pages":"178-188"},"PeriodicalIF":0.0,"publicationDate":"2023-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10601953/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71415787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}