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Efficacy and safety of daprodustat in patients on peritoneal dialysis in the ASCEND-D trial. ASCEND-D试验中达制片司他在腹膜透析患者中的有效性和安全性。
IF 4.8 2区 医学
Nephrology Dialysis Transplantation Pub Date : 2025-06-30 DOI: 10.1093/ndt/gfae273
Indranil Dasgupta, Amy M Meadowcroft, Purav R Bhatt, Anjali Acharya, Michael Aarup, Ricardo Correa-Rotter, Shruti Gupta, Vijay K Kher, Osvaldo M Viera Neto, Anjay Rastogi, Mai Ots-Rosenberg, Brian Rayner, Muh Geot Wong, Sunay Shah, Lin Taft, Ajay K Singh
{"title":"Efficacy and safety of daprodustat in patients on peritoneal dialysis in the ASCEND-D trial.","authors":"Indranil Dasgupta, Amy M Meadowcroft, Purav R Bhatt, Anjali Acharya, Michael Aarup, Ricardo Correa-Rotter, Shruti Gupta, Vijay K Kher, Osvaldo M Viera Neto, Anjay Rastogi, Mai Ots-Rosenberg, Brian Rayner, Muh Geot Wong, Sunay Shah, Lin Taft, Ajay K Singh","doi":"10.1093/ndt/gfae273","DOIUrl":"10.1093/ndt/gfae273","url":null,"abstract":"<p><strong>Background and hypothesis: </strong>Daprodustat, an oral hypoxia-inducible factor prolyl hydroxylase inhibitor, is approved for treatment of anemia in dialysis patients with CKD in some parts of the world. This subgroup analysis examined the efficacy and safety of daprodustat versus darbepoetin alfa in patients with anemia of CKD undergoing peritoneal dialysis (PD).</p><p><strong>Methods: </strong>ASCEND-D (NCT02879305) was an open-label, Phase 3 trial; patients with CKD were randomized to daprodustat daily and epoetin alfa (HD patients) or darbepoetin alfa (PD patients). In PD patients, prespecified analyses of the co-primary endpoints of mean change in hemoglobin from baseline to Weeks 28-52 using an ANOVA model and first occurrence of a major cardiovascular event (MACE) using a Cox proportional hazards model were conducted. The secondary endpoints were average monthly intravenous iron dose to Week 52 and treatment-emergent adverse events. Additional post hoc analyses were conducted.</p><p><strong>Results: </strong>Overall, 340 PD patients (daprodustat n = 171, darbepoetin alfa n = 169) were randomized. Mean age was 53.6 years (±14 SD), 55% male, 56% White. For daprodustat and darbepoetin alfa groups respectively, mean change in hemoglobin was 0.38 and 0.23 g/dL [adjusted mean difference 0.15, 95% confidence interval (CI), -0.04, 0.34], and first occurrence of adjudicated MACE occurred in 40 (23.4%) and 46 (27.2%) patients (HR 0.84; 95% CI, 0.55-1.28). No heterogeneity was observed between PD and HD patients for these endpoints in ASCEND-D. Serum hepcidin was lower with daprodustat; there was no difference in other iron parameters, intravenous iron usage, transfusion requirement, blood pressure, or quality of life. There were no differences in adverse events or incidence of peritonitis between the groups.</p><p><strong>Conclusions: </strong>This subgroup analysis of the ASCEND-D trial demonstrated comparable efficacy and safety of daprodustat versus darbepoetin alfa in PD patients, supporting its use in the treatment of anemia in these patients.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":" ","pages":"1332-1341"},"PeriodicalIF":4.8,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12207604/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Estimated potassium intake and the progression of chronic kidney disease. 估计的钾摄入量与慢性肾病的进展。
IF 4.8 2区 医学
Nephrology Dialysis Transplantation Pub Date : 2025-06-30 DOI: 10.1093/ndt/gfae277
Tatsuya Suenaga, Shigeru Tanaka, Hiromasa Kitamura, Kazuhiko Tsuruya, Toshiaki Nakano, Takanari Kitazono
{"title":"Estimated potassium intake and the progression of chronic kidney disease.","authors":"Tatsuya Suenaga, Shigeru Tanaka, Hiromasa Kitamura, Kazuhiko Tsuruya, Toshiaki Nakano, Takanari Kitazono","doi":"10.1093/ndt/gfae277","DOIUrl":"10.1093/ndt/gfae277","url":null,"abstract":"<p><strong>Background: </strong>Lower potassium intake is associated with a higher risk of chronic kidney disease (CKD) in the general population. However, there are no stated recommendations on potassium intake in the CKD population owing to limited evidence of benefits from potassium intake and concerns about the risk of hyperkalaemia. This study aimed to investigate the relationship between potassium intake and CKD progression.</p><p><strong>Methods: </strong>A total of 4314 patients aged 18 years or older in Japan were prospectively followed for 5 years using data from the Fukuoka Kidney Disease Registry study. The patients were divided into quartiles according to estimated potassium intake levels assessed by the Tanaka formula from spot urine samples. The primary outcome was CKD progression, which was defined as a composite of a 1.5-fold increase in creatinine concentrations from baseline and development of end-stage kidney disease. We evaluated the relationship between estimated potassium intake and CKD progression using Cox proportional hazards models.</p><p><strong>Results: </strong>A total of 1490 patients showed CKD progression during the follow-up with an incidence rate of 90.1/1000 person-years. Patients in the lowest estimated potassium intake quartile had higher hazard ratios for CKD progression than those in the highest quartiles in the multivariable-adjusted Cox models [hazard ratio (95% confidence interval) 1.24 (1.03-1.48)]. Similarly, each 1-standard deviation decrease in estimated potassium intake as a continuous variable was associated with a higher risk of CKD progression [hazard ratio (95% confidence interval) 1.10 (1.03-1.19)].</p><p><strong>Conclusions: </strong>Lower estimated potassium intake is associated with CKD progression in patients with CKD. Therefore, we recommend adequate potassium intake, taking care not to cause serious adverse events.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":" ","pages":"1362-1373"},"PeriodicalIF":4.8,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12207611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The future of glucagon-like peptide-1 receptor agonists in cardiovascular-kidney-metabolic diseases considerations from the ERA Diabesity Working Group. 胰高血糖素样肽-1受体激动剂在心血管-肾脏代谢疾病中的应用前景
IF 4.8 2区 医学
Nephrology Dialysis Transplantation Pub Date : 2025-05-30 DOI: 10.1093/ndt/gfaf008
Matias Trillini, Trond Geir Jenssen, William Patrick Martin, Enrique Morales
{"title":"The future of glucagon-like peptide-1 receptor agonists in cardiovascular-kidney-metabolic diseases considerations from the ERA Diabesity Working Group.","authors":"Matias Trillini, Trond Geir Jenssen, William Patrick Martin, Enrique Morales","doi":"10.1093/ndt/gfaf008","DOIUrl":"10.1093/ndt/gfaf008","url":null,"abstract":"","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":" ","pages":"1069-1076"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142971679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Patients with membranous lupus nephritis form two clusters with different prognoses. 鉴别膜性狼疮性肾炎患者的两个不同集群:基于无监督分析的高风险概况识别。
IF 4.8 2区 医学
Nephrology Dialysis Transplantation Pub Date : 2025-05-30 DOI: 10.1093/ndt/gfae295
Zhipeng Wang, Wang Xiang, Yiqin Wang, Jianwen Yu, Xin Wang, Hongjian Ye, Haishan Wu, Ruihan Tang, Xi Xia, Wei Chen
{"title":"Patients with membranous lupus nephritis form two clusters with different prognoses.","authors":"Zhipeng Wang, Wang Xiang, Yiqin Wang, Jianwen Yu, Xin Wang, Hongjian Ye, Haishan Wu, Ruihan Tang, Xi Xia, Wei Chen","doi":"10.1093/ndt/gfae295","DOIUrl":"10.1093/ndt/gfae295","url":null,"abstract":"<p><strong>Background and hypothesis: </strong>Membranous lupus nephritis (MLN) traditionally includes class V (alone), and may be associated with other classes (III or IV). The clinical, therapeutic, and prognostic relevance of the classification remains controversial.</p><p><strong>Methods: </strong>A retrospective cohort of 412 MLN patients from the First Affiliated Hospital of Sun-Yat Sen University was followed for a median of 65.68 (interquartile range 23.13-131.70) months. The primary outcomes were adverse renal events including all-cause death and ESRD. Phenotypes were identified and validated using unsupervised clustering analysis (K-means), principal component analysis and decision tree analysis.</p><p><strong>Results: </strong>Distinct clinical and pathological differences were noted between the traditional class IV + V and classes V + III and V, while class V + III and class V exhibited high similarities in clinical features and prognosis (P = 0.074). K-means clustering revealed high-risk (n = 180) and low-risk (n = 232) groups, with significant differences in adverse renal outcomes (9.2% vs 4.1%, P < 0.001). To recognize the high-risk profile of MLN patients, a decision tree based on Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) score, hemoglobin, serum creatinine, traditional classification, and activity index of renal biopsy accurately clustered patients in the development (95.8% accuracy) and validation (87.1% accuracy) cohorts.</p><p><strong>Conclusions: </strong>Two novel phenotypic clusters, more predictive than traditional classifications, enhance high-risk profile identification and prognostic accuracy.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":" ","pages":"1213-1224"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142895738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characteristics, treatment and disease burden among stage 3-4 chronic kidney disease patients with and without type 2 diabetes in Finland during 2016-2022. 2016-2022 年期间芬兰患有和未患有 2 型糖尿病的 3-4 期慢性肾病患者的特征、治疗和疾病负担。
IF 4.8 2区 医学
Nephrology Dialysis Transplantation Pub Date : 2025-05-30 DOI: 10.1093/ndt/gfae242
Kaj Metsärinne, Johan Bodegård, Iiro Toppila, Kristiina Uusi-Rauva, Line Elmerdahl Frederiksen, Satu Brinkmann
{"title":"Characteristics, treatment and disease burden among stage 3-4 chronic kidney disease patients with and without type 2 diabetes in Finland during 2016-2022.","authors":"Kaj Metsärinne, Johan Bodegård, Iiro Toppila, Kristiina Uusi-Rauva, Line Elmerdahl Frederiksen, Satu Brinkmann","doi":"10.1093/ndt/gfae242","DOIUrl":"10.1093/ndt/gfae242","url":null,"abstract":"<p><strong>Background: </strong>Real-world evidence on the management of chronic kidney disease (CKD) with and without type 2 diabetes (T2D) is limited. This study described the characteristics, treatment and disease burden in patients with stage 3-4 CKD with and without T2D in Finland.</p><p><strong>Methods: </strong>This cohort study used data from primary and hospital care in five municipalities in Finland to identify adults with stage 3-4 CKD, defined as having either one estimated glomerular filtration rate (eGFR) measurement of 15-59 mL/min/1.73 m2 followed by a second measurement taken ≥90 days later, or a registered CKD diagnosis. Prevalence was determined on 31 December 2022, and a cohort of incident stage 3-4 CKD patients was followed from the first date fulfilling eligibility criteria since 1 January 2016 (index) until death or 31 December 2022, and analyzed by T2D status.</p><p><strong>Results: </strong>The prevalence of stage 3-4 CKD was 6.3%. Among the 12 474 incident stage 3-4 CKD patients, the majority were non-T2D (73%). The median age was similar for non-T2D and T2D CKD patients, respectively. Baseline albuminuria screening was 9% among non-T2D and 53% among T2D. The use of kidney-protective treatments at index was also lower in non-T2D patients (47%), compared with T2D patients (69%). The use of kidney-protective treatments remained unchanged during 12 months after index. Healthcare resource utilization was high, and CKD or heart failure contributed considerably more to the all-cause healthcare costs than atherosclerotic diseases, regardless of T2D status. In both CKD subgroups, 10% had died within 1 year.</p><p><strong>Conclusions: </strong>In Finland, CKD is highly prevalent and associated with high risks and low use of albuminuria testing and kidney-protective medications. Most CKD patients were non-T2D, which showed lower use of preventive management and similar risks compared with T2D patients. These findings call for an urgent need for improved awareness and risk management, especially in non-T2D CKD patients.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":" ","pages":"1115-1123"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12209851/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142605382","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction to: Management of adult patients with podocytopathies: an update from the ERA Immunonephrology Working Group. 更正:荚膜细胞病变成年患者的管理:ERA 免疫肾脏病工作组的最新进展。
IF 4.8 2区 医学
Nephrology Dialysis Transplantation Pub Date : 2025-05-30 DOI: 10.1093/ndt/gfae215
{"title":"Correction to: Management of adult patients with podocytopathies: an update from the ERA Immunonephrology Working Group.","authors":"","doi":"10.1093/ndt/gfae215","DOIUrl":"10.1093/ndt/gfae215","url":null,"abstract":"","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":" ","pages":"1260"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12123302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142350765","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Seasonal variations in the association between proteinuria and kidney failure. 蛋白尿、慢性肾脏病和肾衰竭之间关系的季节性变化。
IF 4.8 2区 医学
Nephrology Dialysis Transplantation Pub Date : 2025-05-30 DOI: 10.1093/ndt/gfae278
Takayuki Kawaoka, Yusuke Sakaguchi, Tatsufumi Oka, Yuta Asahina, Koki Hattori, Yohei Doi, Nobuhiro Hashimoto, Yasuo Kusunoki, Satoko Yamamoto, Masafumi Yamato, Ryohei Yamamoto, Isao Matsui, Masayuki Mizui, Jun-Ya Kaimori, Yoshitaka Isaka
{"title":"Seasonal variations in the association between proteinuria and kidney failure.","authors":"Takayuki Kawaoka, Yusuke Sakaguchi, Tatsufumi Oka, Yuta Asahina, Koki Hattori, Yohei Doi, Nobuhiro Hashimoto, Yasuo Kusunoki, Satoko Yamamoto, Masafumi Yamato, Ryohei Yamamoto, Isao Matsui, Masayuki Mizui, Jun-Ya Kaimori, Yoshitaka Isaka","doi":"10.1093/ndt/gfae278","DOIUrl":"10.1093/ndt/gfae278","url":null,"abstract":"<p><strong>Background and hypothesis: </strong>Proteinuria exhibits seasonal fluctuations, decreasing in summer and increasing in winter. It is unknown whether the association between proteinuria and the risk of kidney failure varies by season.</p><p><strong>Methods: </strong>The Osaka Consortium for Kidney Disease Research (OCKR) database contained retrospective data from 15 367 patients with estimated glomerular filtration rates of 10-60 mL/min/1.73 m2, who were referred to the Department of Nephrology at five clinical centers in Japan, between 2010 and 2021. Multivariate Cox models were used to examine the associations of urinary protein-to-creatinine ratio (UPCR) in summer (UPCRsummer) and winter (UPCRwinter), with kidney failure defined as initiation of kidney replacement therapy. LASSO was used to compare the strength of the association between UPCRsummer and UPCRwinter with respect to kidney failure. We also assessed whether seasonal fluctuations in UPCR were associated with kidney failure.</p><p><strong>Results: </strong>The median (interquartile range) UPCRwinter was 0.89 (0.22, 2.69) g/gCre, 46% higher than UPCRsummer [0.61 (0.16, 1.87) g/gCre]. During a median follow-up of 3.0 years, 1585 patients developed kidney failure. In time-dependent Cox models, UPCRwinter showed a higher hazard of kidney failure [1.66 per 1-standard deviation (SD) increase; 95% confidence interval (CI) 1.60-1.73] than UPCRsummer (1.45 per 1-SD increase; 95% CI 1.41-1.48). LASSO identified that UPCRwinter was more strongly associated with kidney failure than UPCRsummer. Furthermore, higher percentage changes in UPCRwinter relative to UPCRsummer was associated with a higher hazard of kidney failure.</p><p><strong>Conclusions: </strong>Proteinuria in winter exhibited stronger associations with kidney failure than that in summer. Seasonal fluctuations in UPCR should not be overlooked in the management of chronic kidney disease to make reasonable clinical decisions.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":" ","pages":"1234-1242"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
NephroCheck AKI risk scores (TIMP-2 and IGFBP7) in pregnancy. 妊娠期肾检查AKI风险评分(TIMP-2和IGFBP7)。
IF 4.8 2区 医学
Nephrology Dialysis Transplantation Pub Date : 2025-05-30 DOI: 10.1093/ndt/gfaf031
Katherine Clark, Jennifer Joslin, Carolyn Gill, Priscilla Smith, Hayley Martin, Hayley Tarft, Frances Conti-Ramsden, Lucy C Chappell, Marlies Ostermann, Kate Bramham
{"title":"NephroCheck AKI risk scores (TIMP-2 and IGFBP7) in pregnancy.","authors":"Katherine Clark, Jennifer Joslin, Carolyn Gill, Priscilla Smith, Hayley Martin, Hayley Tarft, Frances Conti-Ramsden, Lucy C Chappell, Marlies Ostermann, Kate Bramham","doi":"10.1093/ndt/gfaf031","DOIUrl":"10.1093/ndt/gfaf031","url":null,"abstract":"","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":" ","pages":"1254-1257"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12209844/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
IL-12/23 blocker ustekinumab for the treatment of ANCA-associated glomerulonephritis. IL-12/23阻滞剂Ustekinumab治疗anca相关性肾小球肾炎
IF 4.8 2区 医学
Nephrology Dialysis Transplantation Pub Date : 2025-05-30 DOI: 10.1093/ndt/gfaf005
Jonas Engesser, Christian F Krebs, Ulf Panzer
{"title":"IL-12/23 blocker ustekinumab for the treatment of ANCA-associated glomerulonephritis.","authors":"Jonas Engesser, Christian F Krebs, Ulf Panzer","doi":"10.1093/ndt/gfaf005","DOIUrl":"10.1093/ndt/gfaf005","url":null,"abstract":"","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":" ","pages":"1066-1068"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142979337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin. 全国不明原因慢性肾病成人队列中的基因检测。
IF 4.8 2区 医学
Nephrology Dialysis Transplantation Pub Date : 2025-05-30 DOI: 10.1093/ndt/gfae270
Amber de Haan, Mark Eijgelsheim, Liffert Vogt, Ewout J Hoorn, Joris I Rotmans, Gijs Fortrie, Roos F J Marsman, Tonia C Rothuizen, H Siebe Spijker, Laura R Claus, Constantijn J A M Konings, Femke Waanders, Joan Doornebal, Andrea B Kramer, Aaltje Y Adema, Bert van der Zwaag, Albertien M van Eerde, Nine V A M Knoers, Martin H de Borst
{"title":"Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin.","authors":"Amber de Haan, Mark Eijgelsheim, Liffert Vogt, Ewout J Hoorn, Joris I Rotmans, Gijs Fortrie, Roos F J Marsman, Tonia C Rothuizen, H Siebe Spijker, Laura R Claus, Constantijn J A M Konings, Femke Waanders, Joan Doornebal, Andrea B Kramer, Aaltje Y Adema, Bert van der Zwaag, Albertien M van Eerde, Nine V A M Knoers, Martin H de Borst","doi":"10.1093/ndt/gfae270","DOIUrl":"10.1093/ndt/gfae270","url":null,"abstract":"<p><strong>Background: </strong>Chronic kidney disease (CKD) remains unexplained in at least 20% of patients. Massively parallel sequencing (MPS) can be a valuable diagnostic tool in patients with unexplained CKD, but prospective data from routine clinical practice are limited. We aimed to determine the diagnostic yield and relevance of MPS-based gene panel testing in patients with unexplained CKD in a real-world context. We additionally examined barriers to implementation of genetic testing.</p><p><strong>Methods: </strong>In this prospective cohort study, we recruited patients with unexplained CKD (estimated glomerular filtration rate <60 ml/min/1.73 m2 without underlying clinical diagnosis) with onset at <50 years of age who underwent MPS-based multigene panel testing from 11 academic and non-academic hospitals across the Netherlands. In patients with a (likely) pathogenic variant, we verified that the variant likely explained the clinical phenotype. A nationwide online survey was sent to all Dutch nephrologists and residents to investigate potential barriers for gene panel testing.</p><p><strong>Results: </strong>A diagnostic variant was identified in 59/340 participants (17%). Most common diagnostic variants were in NPHP1 (13 patients), COL4A3 (12 patients), COL4A4 (5 patients), COL4A5 (6 patients) and PAX2 (5 patients). A genetic diagnosis led to at least one clinical consequence in 73% of patients. Main barriers reported by Dutch nephrologists (N = 71) included genetic illiteracy (53%), difficulties with test selection (51%) and a lack of time (43%).</p><p><strong>Conclusions: </strong>MPS-based multigene panel testing yielded a genetic diagnosis in 17% of patients with unexplained CKD. Our findings support the relevance of MPS in the diagnostic workup of adults with unexplained CKD with onset at <50 years of age. Additionally, our results underline the need to improve genetic education among nephrologists to better the implementation of MPS-based diagnostic testing in clinical practice.</p>","PeriodicalId":19078,"journal":{"name":"Nephrology Dialysis Transplantation","volume":" ","pages":"1225-1233"},"PeriodicalIF":4.8,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142676213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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