Mp45-15 Yield of Genetic Testing in Children With Nephrolithiasis

You have accessJournal of UrologyStone Disease: Epidemiology & Evaluation II (MP45)1 May 2024MP45-15 YIELD OF GENETIC TESTING IN CHILDREN WITH NEPHROLITHIASIS Andrew Ticho, Rocio Goodman, Jennika Finup, Walid A. Farhat, Neil Paloian, and Shannon Cannon Andrew TichoAndrew Ticho , Rocio GoodmanRocio Goodman , Jennika FinupJennika Finup , Walid A. FarhatWalid A. Farhat , Neil PaloianNeil Paloian , and Shannon CannonShannon Cannon View All Author Informationhttps://doi.org/10.1097/01.JU.0001008764.86460.8e.15AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: As pediatric stone disease incidence rises, targeted risk assessments become critical to reduce recurrence. Relationships between monogenic causes of pediatric nephrolithiasis and clinical course remains uncertain. We examined pediatric stone formers with genetic testing and characterized associations between clinical stone disease and presence of pathogenic variants. METHODS: We retrospectively identified pediatric patients<18 years with diagnosis codes for nephrolithiasis who underwent genetic testing (Invitae Nephrolithiasis Panel) from 2019-2023. Tests were classified as negative, variants of uncertain significance (VUS), or pathogenic variants. Data included age at testing, time to follow-up, stone surgeries, stone analysis, follow-up imaging, and initial 24-hour urine (24HU). Recurrence was defined as stones on follow-up imaging. Chi-square and Kruskal-Wallis tests with p<0.05 were significant. RESULTS: Thirty-five patients (57% male, 43% female) with median age of 10.4 years were identified. Of 21 (60%) positive tests, 19 (54%) were VUS and 2 (6%) known pathogenic variants (Figure 1). Mean interval between testing and follow-up varied (pathogenic=7 weeks, VUS=16 weeks, negative=33 weeks, p=0.025.) There were no statistically significant differences in rates of follow-up appointments, follow-up imaging, or recurrence (Table 1). Of 9 (26%) who underwent stone surgeries, 5 were VUS and 4 were negative (p=0.685). All surgeries were performed before genetic testing. Stone analysis (n=15, 43%) did not differ between groups (p=0.860). All patients had at least one abnormal parameter on initial 24 HU. CONCLUSIONS: Genetic testing for stone disease can inform clinical decision-making, potentially decreasing interventions and cost of care. While pathogenic variants or VUS were not associated with increased risk of short-term recurrence, these patients had closer follow-up, suggesting more aggressive preventive management. Studies of larger cohorts with longer follow-up could establish the role of genetic tests in a pediatric population. Download PPT Source of Funding: No sources of funding © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e748 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Andrew Ticho More articles by this author Rocio Goodman More articles by this author Jennika Finup More articles by this author Walid A. Farhat More articles by this author Neil Paloian More articles by this author Shannon Cannon More articles by this author Expand All Advertisement PDF downloadLoading ...