Mp16-08 distinguishing characteristics of children with primary hyperoxaluria type 1 in pedsnet

You have accessJournal of UrologyCME1 Apr 2023MP16-08 DISTINGUISHING CHARACTERISTICS OF CHILDREN WITH PRIMARY HYPEROXALURIA TYPE 1 IN PEDSNET Gregory Tasian, Kimberley Dickinson, Julia Schuchard, Grace Park, Nicole Marchesani, Akanksha Mittal, Nathan Cheng, Christina Ching, David Chu, Ryan Walton, Karyn Yonekawa, Caroline Gluck, Kathleen Kan, William DeFoor, Kyle Rove, and Christopher Forrest Gregory TasianGregory Tasian More articles by this author , Kimberley DickinsonKimberley Dickinson More articles by this author , Julia SchuchardJulia Schuchard More articles by this author , Grace ParkGrace Park More articles by this author , Nicole MarchesaniNicole Marchesani More articles by this author , Akanksha MittalAkanksha Mittal More articles by this author , Nathan ChengNathan Cheng More articles by this author , Christina ChingChristina Ching More articles by this author , David ChuDavid Chu More articles by this author , Ryan WaltonRyan Walton More articles by this author , Karyn YonekawaKaryn Yonekawa More articles by this author , Caroline GluckCaroline Gluck More articles by this author , Kathleen KanKathleen Kan More articles by this author , William DeFoorWilliam DeFoor More articles by this author , Kyle RoveKyle Rove More articles by this author , and Christopher ForrestChristopher Forrest More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003236.08AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Primary hyperoxaluria type 1 (PH1) is an ultra-rare disorder of hepatic overproduction of oxalate that causes early onset kidney stones, chronic kidney disease, and systemic oxalosis. We sought to identify defining clinical characteristics of children with PH1 in order to develop approaches that facilitate its early diagnosis. METHODS: We determined the association between patient-level characteristics of PH1 in a case-control study conducted between January 2009 and August 2021 in PEDSnet, a clinical research network of eight pediatric health systems in the United States. We matched each patient with confirmed PH1 to 4 control patients with kidney stone disease not due to PH1 by sex and PEDSnet site at date of diagnosis (cohort entrance date). We obtained patient characteristics and diagnostic test results occurring before to less than 6 months after cohort entrace from a centralized query of the data pooled from the electronic health records and from manual chart review at each PEDSnet site. Differences in patient characteristics and diagnostic test results between patients were compared using paired tests as appropriate for the distribution of and type of data. RESULTS: The study sample included 37 patients with PH1 and 147 controls. Compared to patients with kidney stone disease not due to PH1, patients with PH1 were younger, were less likely to have immobility, had a higher percentage of stone comprised of calcium oxalate monohydrate, and had a lower eGFR measured within 6 months of cohort entrance (Table 1). There were no statistically significant differences in prevalent diagnosis of failure to thrive, cumulative stone size on ultrasound, nephrocalcinosis on ultrasound or CT, or echocardiography results. CONCLUSIONS: In this study, children with PH1 were characterized by presentation before adolescence, absence of immobility, high percentage of calcium oxalate monohydrate stone composition, and decreased eGFR at diagnosis. If validated in external populations, these consortium of characteristics may enable a strong clinical suspicion for PH1 diagnosis, facilitating confirmatory testing, and facilitating initation of targeted therapeutics. Source of Funding: Alnylam Pharmaceuticals © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue Supplement 4April 2023Page: e205 Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.MetricsAuthor Information Gregory Tasian More articles by this author Kimberley Dickinson More articles by this author Julia Schuchard More articles by this author Grace Park More articles by this author Nicole Marchesani More articles by this author Akanksha Mittal More articles by this author Nathan Cheng More articles by this author Christina Ching More articles by this author David Chu More articles by this author Ryan Walton More articles by this author Karyn Yonekawa More articles by this author Caroline Gluck More articles by this author Kathleen Kan More articles by this author William DeFoor More articles by this author Kyle Rove More articles by this author Christopher Forrest More articles by this author Expand All Advertisement PDF downloadLoading ...