MP45-12 PREVALENCE OF MONOGENIC NEPHROLITHIASIS GENE ALTERATIONS IN A REGIONAL HEALTH CARE SYSTEM

You have accessJournal of UrologyStone Disease: Epidemiology & Evaluation II (MP45)1 May 2024MP45-12 PREVALENCE OF MONOGENIC NEPHROLITHIASIS GENE ALTERATIONS IN A REGIONAL HEALTH CARE SYSTEM Jasmine Kashkoush, Karyn Murphy, Ion Dan Bucaloiu, Steven Scheinman, Kyle Retterer, Alexander Chang, and Heinric Williams Jasmine KashkoushJasmine Kashkoush , Karyn MurphyKaryn Murphy , Ion Dan BucaloiuIon Dan Bucaloiu , Steven ScheinmanSteven Scheinman , Kyle RettererKyle Retterer , Alexander ChangAlexander Chang , and Heinric WilliamsHeinric Williams View All Author Informationhttps://doi.org/10.1097/01.JU.0001008764.86460.8e.12AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Genetic and environmental factors contribute to the development of nephrolithiasis (NL). Hereditability explains at least 45% of this disease and monogenic causes have been identified in a number of known NL genes. In this study, we assessed the prevalence of germline mutations in 34 known NL genes from the United Kingdom NHS Genomic Medicine Service NL PanelApp (UK PanelApp) in our study population. METHODS: Electronic health records (EHR) of individuals with and without a ICD diagnosis of NL participating in the Geisinger MyCode® (DNA exome sequencing program) from 2014 to December 2022 were reviewed. Through the DiscovEHR program which links DNA exome sequencing data with EHR data, we assess NL burden in the MyCode® cohort and the prevalence of all ClinVar pathogenic (P) or likely pathogenic (LP) variants in the 34 genes were assessed among NL patients aged>18 years versus matched variant-negative controls. RESULTS: Among a population of 170,729 MyCode® participants≥18 years old, we identified 10,621 adults (6.2%) with NL related ICD codes in their EHR confirmed on imaging and/or stone analysis. Mean age of stone formers was 59.2 years, 45.8% were male and 99% non-Hispanic white. Heterozygous or homozygous variants in any of the 34 genes were found in 5.9% (631/10,621) of NL population. Compared to variant-negative controls, unique LP/P variants were found in 25/34 genes (73.5%) among NL patients. The SLC7A9 gene (n=115) was most frequently mutated followed by CYP24A1 (n=92) and SLC3A1 (n=92). The percentage of variant carriers with NL for each of the 25 genes is provided. CONCLUSIONS: Our study provides a real-world prevalence of monogenic causes of stone disease in individuals from a regional healthcare system. Source of Funding: None © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e747 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Jasmine Kashkoush More articles by this author Karyn Murphy More articles by this author Ion Dan Bucaloiu More articles by this author Steven Scheinman More articles by this author Kyle Retterer More articles by this author Alexander Chang More articles by this author Heinric Williams More articles by this author Expand All Advertisement PDF downloadLoading ...