Journal of The American Society of Nephrology最新文献

{"title":"mRNA Modification and Mechanisms of Kidney Fibrosis.","authors":"Midori Sakashita, Reiko Inagi","doi":"10.1681/ASN.0000000000000474","DOIUrl":"10.1681/ASN.0000000000000474","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":null,"pages":null},"PeriodicalIF":10.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017869","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}

{"title":"Navigating Renin-Angiotensin System Inhibitors in Patients with Declines in eGFR.","authors":"Rachel Shulman, Jordana B Cohen","doi":"10.1681/ASN.0000000000000470","DOIUrl":"10.1681/ASN.0000000000000470","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":null,"pages":null},"PeriodicalIF":10.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452186/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141975966","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}

{"title":"Integrity of the Glomerular Filtration Barrier: The Impact of Adhesion G-Protein-Coupled Receptor F5 on Glomerular Endothelial Cells.","authors":"Ubong S Ekperikpe, Ilse S Daehn","doi":"10.1681/ASN.0000000000000479","DOIUrl":"10.1681/ASN.0000000000000479","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":null,"pages":null},"PeriodicalIF":10.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452130/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142108685","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}

{"title":"Patient, Nurse, and Physician Perspectives on Personalized, Incremental Hemodialysis.","authors":"Glenda V Roberts, Nichole M Jefferson, Rossella Picillo, Massimo Torreggiani, Giorgina B Piccoli, David A Jaques, Vandana D Niyyar, Janice Lea, Maud Hercé, Isabelle Heude, Julie Rouleau, Aurélie Livet, Fabienne Ribot, Célia Pernet, Paul T Conway, Mariana Murea","doi":"10.1681/ASN.0000000000000467","DOIUrl":"10.1681/ASN.0000000000000467","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":null,"pages":null},"PeriodicalIF":10.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971381","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}

{"title":"Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy.","authors":"Benjamin Wooden, Andrew Beenken, Elena Martinelli, Ken Saida, Andrea L Knob, Juntao Ke, Isabella Pisani, Gina Jin, Brandon Lane, Adele Mitrotti, Elizabeth Colby, Tze Y Lim, Francesca Guglielmi, Amy J Osborne, Dina F Ahram, Chen Wang, Farid Armand, Francesca Zanoni, Andrew S Bomback, Marco Delsante, Gerald B Appel, Massimo R A Ferrari, Jeremiah Martino, Sunil Sahdeo, David Breckenridge, Slavé Petrovski, Dirk S Paul, Gentzon Hall, Riccardo Magistroni, Corrado Murtas, Sandro Feriozzi, Teresa Rampino, Pasquale Esposito, Margaret E Helmuth, Matthew G Sampson, Matthias Kretzler, Krzysztof Kiryluk, Shirlee Shril, Loreto Gesualdo, Umberto Maggiore, Enrico Fiaccadori, Rasheed Gbadegesin, Dominick Santoriello, Vivette D D'Agati, Moin A Saleem, Ali G Gharavi, Friedhelm Hildebrandt, Martin R Pollak, David B Goldstein, Simone Sanna-Cherchi","doi":"10.1681/ASN.0000000501","DOIUrl":"https://doi.org/10.1681/ASN.0000000501","url":null,"abstract":"<p><strong>Background: </strong>Understanding the genetic basis of human diseases has become integral to drug development and precision medicine. Recent advancements have enabled the identification of molecular pathways driving diseases, leading to targeted treatment strategies. The increasing investment in rare diseases by the biotech industry underscores the importance of genetic evidence in drug discovery and approval processes. Here we studied a monogenic Mendelian kidney disease, TRPC6-associated podocytopathy (TRPC6-AP), to present its natural history, genetic spectrum, and clinicopathological associations in a large cohort of patients with causal variants in TRPC6, in order to help define the specific features of disease and further facilitate drug development and clinical trials design.</p><p><strong>Methods: </strong>the study involved 64 individuals from 39 families with TRPC6 causal missense variants. Clinical data, including age of onset, laboratory results, response to treatment, kidney biopsy findings, and genetic information, were collected from multiple centers nationally and internationally. Exome or targeted sequencing was performed and variant classification was based on strict criteria. Structural and functional analyses of TRPC6 variants were conducted to understand their impact on protein function. In depth re-analysis of light and electron microscopy specimens for 9 available kidney biopsies was conducted to identify pathological features and correlates of TRPC6-AP.</p><p><strong>Results: </strong>Large-scale sequencing data did not support causality for TRPC6 protein-truncating variants. We identified 21 unique TRPC6 missense variants, clustering in three distinct regions of the protein, and with different effects on TRPC6 3D protein structure. Kidney biopsy analysis revealed FSGS patterns of injury in most cases, along with distinctive podocyte features including diffuse foot process effacement and swollen cell bodies. The majority of patients presented in adolescence or early adulthood but with ample variation (average 22, SD ± 14 years), with frequent progression to kidney failure but with variability in time between presentation and ESKD.</p><p><strong>Conclusions: </strong>This study provides insights into the genetic spectrum, clinicopathological associations, and natural history of TRPC6-AP.</p>","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":null,"pages":null},"PeriodicalIF":10.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365689","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}

{"title":"Effects of Zibotentan Alone and in Combination with Dapagliflozin on Fluid Retention in Patients with CKD.","authors":"J David Smeijer, Victor S Wasehuus, Neeraj Dhaun, José Luis Górriz, Maria José Soler, Magnus Åstrand, Anne-Kristina Mercier, Peter J Greasley, Phil Ambery, Hiddo J L Heerspink","doi":"10.1681/ASN.0000000000000436","DOIUrl":"10.1681/ASN.0000000000000436","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":null,"pages":null},"PeriodicalIF":10.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452182/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361716","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}

{"title":"Utility of Urinary CD4+ T-Cell Count in Detecting ANCA-Associated Vasculitis Renal Relapse.","authors":"Romain Brousse, Idris Boudhabhay, Jean-Paul Duong Van Huyen, Alexandre Karras","doi":"10.1681/ASN.0000000000000407","DOIUrl":"10.1681/ASN.0000000000000407","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":null,"pages":null},"PeriodicalIF":10.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452145/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142365690","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}

{"title":"Estimated Effect of Restarting Renin-Angiotensin System Inhibitors after Discontinuation on Kidney Outcomes and Mortality.","authors":"Koki Hattori, Yusuke Sakaguchi, Tatsufumi Oka, Yuta Asahina, Takayuki Kawaoka, Yohei Doi, Nobuhiro Hashimoto, Yasuo Kusunoki, Satoko Yamamoto, Masafumi Yamato, Ryohei Yamamoto, Isao Matsui, Masayuki Mizui, Jun-Ya Kaimori, Yoshitaka Isaka","doi":"10.1681/ASN.0000000000000425","DOIUrl":"10.1681/ASN.0000000000000425","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":null,"pages":null},"PeriodicalIF":10.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141419681","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}

{"title":"Potassium-Alkali-Enriched Diet, Hypertension, and Proteinuria following Uninephrectomy.","authors":"Donna L Ralph, Darren Ha, Hillmin Lei, Taylor S Priver, Scotti D Smith, Brandon E McFarlin, Seth Schwindt, Drishti Pandya, Hermann Koepsell, Nuria M Pastor-Soler, Aurelie Edwards, Alicia A McDonough","doi":"10.1681/ASN.0000000000000420","DOIUrl":"10.1681/ASN.0000000000000420","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":null,"pages":null},"PeriodicalIF":10.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141446466","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}

{"title":"Endothelin Receptor Antagonists Plus Sodium-Glucose Cotransporter 2 Inhibitors: Poster Child for a New ERA of Combination Therapies?","authors":"Christine P Limonte, Ian H de Boer","doi":"10.1681/ASN.0000000000000487","DOIUrl":"10.1681/ASN.0000000000000487","url":null,"abstract":"","PeriodicalId":17217,"journal":{"name":"Journal of The American Society of Nephrology","volume":null,"pages":null},"PeriodicalIF":10.3,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11452185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142133039","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}