Article
Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease.
The Journal of clinical investigation - 2 Mar 2026
Münch Johannes, Petrovska Jana, Figueiro-Silva Joana, Rubio-Aliaga Isabel, Cabello Elena M, Ivanovski Ivan, Papik Michael, Oneda Beatrice, Fuster Daniel G, Seeger Harald, Ernandez Thomas, Buchkremer Florian, Wuerzner Gregoire, Dhayat Nasser A, Ritter Alexander, Segerer Stephan, Roth Beat, Rauch Anita, Ferraro Pietro Manuel, Bonny Olivier, Wagner Carsten A, Bachmann-Gagescu Ruxandra
Abstract excerpt
BACKGROUNDKidney stone disease (KSD) affects approximately 10% of the population. While genetic factors are known to play a role in KSD, determining the clinical relevance of rare variants in KSD genes identified in adults remains challenging.METHODSThe Swiss Kidney Stone Cohort is a multicenter longitudinal, observational study consisting of kidney stone formers (KSFs) (n = 701) and non-kidney stone formers...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.