Article
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy.
Kidney international - 1 Apr 2026
Clince Michelle, Elhassan Elhussein A E, Kidd Kendrah O, Malamud Emily, McAnallen Susan M, Danial Arbab, Chung Byung Ha, Kim Myungshin, Sayer John A, Al Alawi Intisar, Bernards Jelle, Jerbi Mouna, Goucha Rym, Ben Jemaa Lamia, Rejeb Imen, Patel Chirag, Mallett Andrew J, Sperati C John, de Boeck Koen, Müller Maximilian, Stehlé Thomas, Guebessi Nisrine Bennani, Robert Thomas, Ivanyi Bela, Csaszar Ildiko, Shril Shirlee, Zheng Sijie, Mathew Gerry George, Dirim Merve Guzel, Dirim Ahmet Burak, Mesnard Laurent, Gueguen Lorraine, Schafer Franz, Bergmann Carsten, Gale Daniel P, Halbritter Jan, Claes Kathleen J, Knebelmann Bertrand, Živná Martina, Kmoch Stanislav, Faguer Stanislas, Hildebrandt Friedhelm, Bleyer Anthony J, Conlon Peter J
Abstract excerpt
INTRODUCTION: 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. METHODS: To gather data, we distributed a REDCap survey on clinical...
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