{"id":"b5dd0cfc81be","type":"article","url":"https://hartvaat.nl/2026/01/19/genotype-fenotypekenmerken-bij-fan1-gerelateerde-karyomegale-tubulointerstitiele/","title":"Genotype-fenotypekenmerken bij FAN1-gerelateerde karyomegale tubulointerstitiële nefropathie","title_en":"Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy","category":"chronische nierziekte","category_label":"Nierziekte","professions":["internist"],"tags":[],"journal":"Kidney International","doi":"https://www.kidney-international.org/article/S0085-2538(26)00007-4/fulltext","source_url":"https://doi.org/https://www.kidney-international.org/article/S0085-2538(26)00007-4/fulltext","authors":["Michelle Clince","Elhussein A.E. Elhassan","Kendrah O. Kidd","Emily Malamud","Susan M. McAnallen","Arbab Danial","Byung Ha Chung","Myungshin Kim","John A. Sayer","Intisar Al Alawi","Jelle Bernards","Mouna Jerbi","Rym Goucha","Lamia Ben Jemaa","Imen Rejeb","Chirag Patel","Andrew J. Mallett","C. John Sperati","Koen de Boeck","Maximilian Müller","Thomas Stehlé","Nisrine Bennani Guebessi","Thomas Robert","Bela Ivanyi","Ildiko Csaszar","Shirlee Shril","Sijie Zheng","Gerry George Mathew","Merve Guzel Dirim","Ahmet Burak Dirim","Laurent Mesnard","Lorraine Gueguen","Franz Schafer","Carsten Bergmann","Daniel P. Gale","Jan Halbritter","Kathleen J. Claes","Bertrand Knebelmann","Martina Živná","Stanislav Kmoch","Stanislas Faguer","Friedhelm Hildebrandt","Anthony J. Bleyer","Peter J. Conlon"],"significance":4,"published":"2026-01-19","source_date":"2026-01-19","image":"","kennis":[],"congress":"","summary_en":"A collaborative cross-sectional study characterised genotype-phenotype correlations in FAN1-related karyomegalic tubulointerstitial nephropathy, a rare condition poorly characterised in terms of kidney and patient survival.","created":"2026-07-03T10:25:33Z","updated":"2026-07-03T13:24:57Z","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":"Biallelische varianten in FAN1 veroorzaken karyomegale tubulointerstitiële nefropathie (KIN), een aandoening die slecht gekarakteriseerd is qua nieroverleving en klinische kenmerken. Deze studie brengt genotype-fenotypecorrelaties in kaart.","abstract_original":"Biallelic variants in Fanconi Anemia-associated Nuclease 1 (FAN1) cause karyomegalic tubulointerstitial nephropathy (KIN), a condition poorly characterized in terms of kidney survival, patient survival, and clinical characteristics. Therefore, we undertook a cross-sectional collaborative study to better characterize KIN-FAN1."}