{"id":"903cf545599e","type":"article","url":"https://hartvaat.nl/2026/02/11/drosophila-model-voor-de-ziekte-van-dent-type-1-onthult-pathogeen-mechanisme/","title":"Drosophila-model voor de ziekte van Dent type 1 onthult pathogeen mechanisme","title_en":"A Drosophila model for Dent’s disease type 1 revealed impaired endoplasmic reticulum export of Cubilin as pathogenic mechanism","category":"chronische nierziekte","category_label":"Nierziekte","professions":["internist"],"tags":[],"journal":"Kidney International","doi":"https://www.kidney-international.org/article/S0085-2538(26)00087-6/fulltext","source_url":"https://doi.org/https://www.kidney-international.org/article/S0085-2538(26)00087-6/fulltext","authors":["Salómon Christer","Zvonimir Marelja","Indira Dibra","Hannah Hauschild","Marine Berquez","Hetvi Gandhi","Yung-Hsin Shih","Svenja Keller","Martin Helmstädter","Christoph Schell","Olivier Devuyst","Matias Simons"],"significance":3,"published":"2026-02-11","source_date":"2026-02-11","image":"","kennis":[],"congress":"","summary_en":"This Drosophila model for Dent disease type 1 revealed that impaired endoplasmic reticulum export of Cubilin is the pathogenic mechanism underlying the endolysosomal disorder caused by CLCN5 mutations.","created":"2026-07-03T10:25:23Z","updated":"2026-07-03T13:24:49Z","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":"Mutaties in CLCN5 veroorzaken de ziekte van Dent type 1, een genetische stoornis van het endolysosomale systeem in de proximale niertubuli. Dit Drosophila-model toont aan dat gestoord endoplasmatisch reticulumexport van Cubiline het pathogene mechanisme is.","abstract_original":"Pathogenic variants in the CLCN5 gene encoding the chloride-hydrogen exchanger ClC-5 cause Dent’s disease type 1, a genetic disorder of the endolysosomal pathway in the proximal tubules of the kidneys. A hallmark of this disease is the downregulation of the protein uptake receptor consisting of megalin, cubilin and amnionless, causing low-molecular-weight proteinuria. Why these receptors are downregulated is not fully understood."}