{"id":"0ee7a6bf6be3","type":"article","url":"https://hartvaat.nl/2025/12/24/genomische-ontdekking-bij-nefrotisch-syndroom-mefv-varianten-als-risicofactor-vo/","title":"Genomische ontdekking bij nefrotisch syndroom: MEFV-varianten als risicofactor voor FSGS","title_en":"Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis","category":"chronische nierziekte","category_label":"Nierziekte","professions":["internist"],"tags":["cardiovasculaire-genetica","cystatine-c","familiaire-hypercholesterolemie","familiaire-hypercholesterolemie-screening"],"journal":"Kidney International","doi":"https://www.kidney-international.org/article/S0085-2538(25)01023-3/fulltext","source_url":"https://doi.org/https://www.kidney-international.org/article/S0085-2538(25)01023-3/fulltext","authors":["Janewit Wongboonsin","Kristen M. Gibson","Juntao Ke","Zachary T. Sentell","Juliana E. Arcila-Galvis","Satoshi Koyama","Anya Greenberg","Kaylia M. Reynolds","Giovanni Montini","Riccardo Magistroni","Adele Mitrotti","Loreto Gesualdo","Alessandro Pezzuto","Licia Peruzzi","Yasar Caliskan","Ana C. Onuchic-Whitford","Srichan Bunlungsup","Michelle McNulty","Rasheed Gbadegesin","Moin A. Saleem","Martin R. Pollak","Friedhelm Hildebrandt","Pradeep Natarajan","Dongwon Lee","Sagar U. Nigwekar","John A. Sayer","Simone Sanna-Cherchi","Matthew G. Sampson"],"significance":5,"published":"2025-12-24","source_date":"2025-12-24","image":"","kennis":[],"congress":"","summary_en":"A genomic discovery study in the Mass General Brigham Biobank identified monoallelic MEFV variants as a novel risk factor for focal segmental glomerulosclerosis. The finding links inflammatory pathway genetics to nephrotic syndrome susceptibility.","created":"2026-07-03T10:25:39Z","updated":"2026-07-03T13:25:02Z","licence":"Citeer vrij, met bronvermelding en een link naar hartvaat.nl (de url van het record). Samenvattingen zijn redactioneel werk van HartVaat; de oorspronkelijke publicaties blijven van hun uitgevers (doi). Geen medisch advies.","body_markdown":"Biobanken met genetische data bieden unieke kansen voor genomische ontdekking bij nefrotisch syndroom. Deze studie in de Mass General Brigham Biobank identificeerde monoallelische MEFV-varianten als risicofactor voor focale segmentale glomerulosclerose.","abstract_original":"Health system-based biobanks with genetic data provide a unique opportunity for nephrotic syndrome (NS) genomic discovery. This is predicated on finding cases in the electronic health record."}