{"id":"b6b06d75bf80","type":"article","url":"https://hartvaat.nl/2025/12/08/bijdrage-van-genetische-varianten-aan-nefrolithiase/","title":"Bijdrage van genetische varianten aan nefrolithiase","title_en":"Contribution of genetic variants to nephrolithiasis","category":"chronische nierziekte","category_label":"Nierziekte","professions":["internist"],"tags":[],"journal":"Kidney International","doi":"https://www.kidney-international.org/article/S0085-2538(25)00943-3/fulltext","source_url":"https://doi.org/https://www.kidney-international.org/article/S0085-2538(25)00943-3/fulltext","authors":["Tilman B. Drueke","Krzysztof Kiryluk","Robert J. Unwin"],"significance":6,"published":"2025-12-08","source_date":"2025-12-08","image":"","kennis":["https://hartvaat.nl/kennis/cardiometabool/obesitas-en-hart/"],"congress":"","summary_en":"This review discussed the genetic contribution to nephrolithiasis, highlighting that kidney stones have cardiovascular implications through shared metabolic pathways with hypertension and CKD.","created":"2026-07-03T10:25:41Z","updated":"2026-07-03T13:25:04Z","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":"Nefrolithiase heeft een prevalentie van circa 11% en is een veelvoorkomende, recidiverende aandoening. Naast de nier en urinewegen is het geassocieerd met systemische ziekten. Dit overzicht bespreekt de bijdrage van genetische varianten.","abstract_original":"Nephrolithiasis is a common, frequently recurring condition with a reported prevalence of approximately 11% and a yearly incidence of approximately 2%.1,2 Although it primarily affects the kidney and urinary tract, nephrolithiasis is also linked to systemic conditions, such as cardiovascular disease, metabolic syndrome, and osteopenia. Several rare monogenic causes of nephrolithiasis are well characterized, but most cases are idiopathic and involve multiple contributing factors. These include environmental influences and systemic disturbances in calcium, phosphate, oxalate, uric acid, and acid-base balance, which can cause a variety of clinical presentations."}