Pub Date : 2024-07-11DOI: 10.1053/j.ajkd.2023.12.026
{"title":"Antioxidants for Adults With CKD: Editorial Summary of a Cochrane Review","authors":"","doi":"10.1053/j.ajkd.2023.12.026","DOIUrl":"10.1053/j.ajkd.2023.12.026","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":null,"pages":null},"PeriodicalIF":9.4,"publicationDate":"2024-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0272638624008643/pdfft?md5=7f485ca73b0c4823e333e2f0d2ec83de&pid=1-s2.0-S0272638624008643-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603148","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-10DOI: 10.1053/j.ajkd.2024.06.009
{"title":"Revisiting Antioxidants in CKD: Still No Consensus","authors":"","doi":"10.1053/j.ajkd.2024.06.009","DOIUrl":"10.1053/j.ajkd.2024.06.009","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":null,"pages":null},"PeriodicalIF":9.4,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0272638624008655/pdfft?md5=b9335ccccfb7eada41c3bd048e475d32&pid=1-s2.0-S0272638624008655-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-10DOI: 10.1053/j.ajkd.2024.06.008
{"title":"Use of Pragmatic Trials to Improve Implementation of Best Practices for CKD","authors":"","doi":"10.1053/j.ajkd.2024.06.008","DOIUrl":"10.1053/j.ajkd.2024.06.008","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":null,"pages":null},"PeriodicalIF":9.4,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141589433","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-08DOI: 10.1053/j.ajkd.2024.06.006
Chenyu Li, Katalin Susztak
{"title":"Genetic Insights into Blood Pressure From Kidney Multi-Omics.","authors":"Chenyu Li, Katalin Susztak","doi":"10.1053/j.ajkd.2024.06.006","DOIUrl":"10.1053/j.ajkd.2024.06.006","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":null,"pages":null},"PeriodicalIF":9.4,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141578702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-06DOI: 10.1053/j.ajkd.2024.04.021
Miquel Blasco, Borja Quiroga, José M García-Aznar, Cristina Castro-Alonso, Saulo J Fernández-Granados, Enrique Luna, Gema Fernández Fresnedo, Marta Ossorio, María Jesús Izquierdo, Didier Sanchez-Ospina, Laura Castañeda-Infante, Ricardo Mouzo, Mercedes Cao, María L Besada-Cerecedo, Ricardo Pan-Lizcano, Roser Torra, Alberto Ortiz, Patricia de Sequera
Rationale & objective: Chronic kidney disease of unknown etiology (CKDUE) is one of the main global causes of kidney failure. Genetic studies may identify an etiology in these patients, but few studies have implemented genetic testing of CKDUE in a population-based series of patients, which was the focus of the GENSEN Study.
Study design: Case series.
Settings & participants: 818 patients aged≤45 years at 51 Spanish centers with CKDUE, and either an estimated glomerular filtration rate of<15mL/min/1.73m2 or treatment with maintenance dialysis or transplantation.
Observations: Genetic testing for 529 genes associated with inherited nephropathies using high-throughput sequencing (HTS). Pathogenic and/or likely pathogenic (P/LP) gene variants concordant with the inheritance pattern were detected in 203 patients (24.8%). Variants in type IV collagen genes were the most frequent (COL4A5, COL4A4, COL4A3; 35% of total gene variants), followed by NPHP1, PAX2, UMOD, MUC1, and INF2 (7.3%, 5.9%, 2.5%, 2.5%, and 2.5%, respectively). Overall, 87 novel variants classified as P/LP were identified. The top 5 most common previously undiagnosed diseases were Alport syndrome spectrum (35% of total positive reports), genetic podocytopathies (19%), nephronophthisis (11%), autosomal dominant tubulointerstitial kidney disease (7%), and congenital anomalies of the kidney and urinary tract (CAKUT, 5%). A family history of kidney disease was reported by 191 participants (23.3%) and by 65 of 203 patients (32.0%) with P/LP variants.
Limitations: Missing data, and selection bias resulting from voluntary enrollment.
Conclusions: Genomic testing with HTS identified a genetic cause of kidney disease in approximately one quarter of young patients with CKDUE and advanced kidney disease. These findings suggest that genetic studies are a potentially useful tool for the evaluation of people with CKDUE.
Plain-language summary: The cause of kidney disease is unknown for 1 in 5 patients requiring kidney replacement therapy, reflecting possible prior missed treatment opportunities. We assessed the diagnostic utility of genetic testing in children and adults aged≤45 years with either an estimated glomerular filtration rate of<15mL/min/1.73m2 or treatment with maintenance dialysis or transplantation. Genetic testing identified the cause of kidney disease in approximately 1 in 4 patients without a previously known cause of kidney disease, suggesting that genetic studies are a potentially useful tool for the evaluation of these patients.
{"title":"Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study.","authors":"Miquel Blasco, Borja Quiroga, José M García-Aznar, Cristina Castro-Alonso, Saulo J Fernández-Granados, Enrique Luna, Gema Fernández Fresnedo, Marta Ossorio, María Jesús Izquierdo, Didier Sanchez-Ospina, Laura Castañeda-Infante, Ricardo Mouzo, Mercedes Cao, María L Besada-Cerecedo, Ricardo Pan-Lizcano, Roser Torra, Alberto Ortiz, Patricia de Sequera","doi":"10.1053/j.ajkd.2024.04.021","DOIUrl":"10.1053/j.ajkd.2024.04.021","url":null,"abstract":"<p><strong>Rationale & objective: </strong>Chronic kidney disease of unknown etiology (CKDUE) is one of the main global causes of kidney failure. Genetic studies may identify an etiology in these patients, but few studies have implemented genetic testing of CKDUE in a population-based series of patients, which was the focus of the GENSEN Study.</p><p><strong>Study design: </strong>Case series.</p><p><strong>Settings & participants: </strong>818 patients aged≤45 years at 51 Spanish centers with CKDUE, and either an estimated glomerular filtration rate of<15mL/min/1.73m<sup>2</sup> or treatment with maintenance dialysis or transplantation.</p><p><strong>Observations: </strong>Genetic testing for 529 genes associated with inherited nephropathies using high-throughput sequencing (HTS). Pathogenic and/or likely pathogenic (P/LP) gene variants concordant with the inheritance pattern were detected in 203 patients (24.8%). Variants in type IV collagen genes were the most frequent (COL4A5, COL4A4, COL4A3; 35% of total gene variants), followed by NPHP1, PAX2, UMOD, MUC1, and INF2 (7.3%, 5.9%, 2.5%, 2.5%, and 2.5%, respectively). Overall, 87 novel variants classified as P/LP were identified. The top 5 most common previously undiagnosed diseases were Alport syndrome spectrum (35% of total positive reports), genetic podocytopathies (19%), nephronophthisis (11%), autosomal dominant tubulointerstitial kidney disease (7%), and congenital anomalies of the kidney and urinary tract (CAKUT, 5%). A family history of kidney disease was reported by 191 participants (23.3%) and by 65 of 203 patients (32.0%) with P/LP variants.</p><p><strong>Limitations: </strong>Missing data, and selection bias resulting from voluntary enrollment.</p><p><strong>Conclusions: </strong>Genomic testing with HTS identified a genetic cause of kidney disease in approximately one quarter of young patients with CKDUE and advanced kidney disease. These findings suggest that genetic studies are a potentially useful tool for the evaluation of people with CKDUE.</p><p><strong>Plain-language summary: </strong>The cause of kidney disease is unknown for 1 in 5 patients requiring kidney replacement therapy, reflecting possible prior missed treatment opportunities. We assessed the diagnostic utility of genetic testing in children and adults aged≤45 years with either an estimated glomerular filtration rate of<15mL/min/1.73m<sup>2</sup> or treatment with maintenance dialysis or transplantation. Genetic testing identified the cause of kidney disease in approximately 1 in 4 patients without a previously known cause of kidney disease, suggesting that genetic studies are a potentially useful tool for the evaluation of these patients.</p>","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":null,"pages":null},"PeriodicalIF":9.4,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141553974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-04DOI: 10.1053/j.ajkd.2024.04.014
Rajiv Agarwal
{"title":"Humanizing Nephrology: The Power of Social History.","authors":"Rajiv Agarwal","doi":"10.1053/j.ajkd.2024.04.014","DOIUrl":"https://doi.org/10.1053/j.ajkd.2024.04.014","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":null,"pages":null},"PeriodicalIF":9.4,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141544341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-04DOI: 10.1053/j.ajkd.2024.06.002
{"title":"Mitigating the Disparate Impacts of Longevity Matching of Kidney Transplants","authors":"","doi":"10.1053/j.ajkd.2024.06.002","DOIUrl":"10.1053/j.ajkd.2024.06.002","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":null,"pages":null},"PeriodicalIF":9.4,"publicationDate":"2024-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0272638624008308/pdfft?md5=1b38c941b9333d1ea8e70a4509f671aa&pid=1-s2.0-S0272638624008308-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141544342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-03DOI: 10.1053/j.ajkd.2024.03.029
Justin C Cordova
{"title":"Waiting.","authors":"Justin C Cordova","doi":"10.1053/j.ajkd.2024.03.029","DOIUrl":"https://doi.org/10.1053/j.ajkd.2024.03.029","url":null,"abstract":"","PeriodicalId":7419,"journal":{"name":"American Journal of Kidney Diseases","volume":null,"pages":null},"PeriodicalIF":9.4,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141490501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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