Characterization of Stone Events in Patients With Type 3 Primary Hyperoxaluria

No AccessJournal of UrologyAdult Urology1 Jun 2023Characterization of Stone Events in Patients With Type 3 Primary Hyperoxaluria Muhammad G. Arnous, Lisa Vaughan, Ramila A. Mehta, Phillip J. Schulte, John C. Lieske, and Dawn S. Milliner Muhammad G. ArnousMuhammad G. Arnous Divison of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota More articles by this author , Lisa VaughanLisa Vaughan Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota More articles by this author , Ramila A. MehtaRamila A. Mehta Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota More articles by this author , Phillip J. SchultePhillip J. Schulte Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota More articles by this author , John C. LieskeJohn C. Lieske *Correspondence: Division of Nephrology and Hypertension, Mayo Clinic, 200 First St SW, Rochester, MN 55905 telephone: 507-266-7960; E-mail Address: [email protected] https://orcid.org/0000-0002-0202-5944 Divison of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota More articles by this author , and Dawn S. MillinerDawn S. Milliner Divison of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota Division of Pediatric Nephrology, Mayo Clinic, Rochester, Minnesota More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000003400AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: Hallmarks of primary hyperoxaluria type 3 are nephrolithiasis and hyperoxaluria. However, little is known about factors influencing stone formation in this disease. We characterized stone events and examined associations with urine parameters and kidney function in a primary hyperoxaluria type 3 population. Materials and Methods: We retrospectively analyzed clinical, and laboratory data of 70 primary hyperoxaluria type 3 patients enrolled in the Rare Kidney Stone Consortium Primary Hyperoxaluria Registry. Results: Kidney stones occurred in 65/70 primary hyperoxaluria type 3 patients (93%). Among the 49 patients with imaging available, the median (IQR) number of stones was 4 (2, 5), with largest stone 7 mm (4, 10) at first imaging. Clinical stone events occurred in 62/70 (89%) with median number of events per patient 3 (2, 6; range 1-49). Age at first stone event was 3 years (0.99, 8.7). Lifetime stone event rate was 0.19 events/year (0.12, 0.38) during follow-up of 10.7 (4.2, 26.3) years. Among 326 total clinical stone events, 139 (42.6%) required surgical intervention. High stone event rates persisted for most patients through the sixth decade of life. Analysis was available for 55 stones: pure calcium oxalate accounted for 69%, with mixed calcium oxalate and phosphate in 22%. Higher calcium oxalate supersaturation was associated with increased lifetime stone event rate after adjusting for age at first event (IRR [95%CI] 1.23 [1.16, 1.32]; P < .001). By the fourth decade, estimated glomerular filtration rate was lower in primary hyperoxaluria type 3 patients than the general population. Conclusions: Stones impose a lifelong burden on primary hyperoxaluria type 3 patients. Reducing urinary calcium oxalate supersaturation may reduce event frequency and surgical intervention. REFERENCES 1. . Primary hyperoxaluria. N Engl J Med. 2013; 369(7):649-658. Crossref, Medline, Google Scholar 2. . The primary hyperoxalurias. Kidney Int. 2009; 75(12):1264-1271. Crossref, Medline, Google Scholar 3. . An update on primary hyperoxaluria. 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Ethics Statement: This study received Institutional Review Board approval (IRB No. 11-001702). © 2023 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 209Issue 6June 2023Page: 1141-1150Supplementary Materials Peer Review Report Advertisement Copyright & Permissions© 2023 by American Urological Association Education and Research, Inc.Keywordschronickidney calculirenal insufficiencyprimary4-hydroxy-2-oxoglutarate aldolasehyperoxaluriaAcknowledgmentsWe thank the RKSC study coordinators who collected clinical data and biological samples. We thank all the patients and families who have participated in the RKSC PH registry and the many physicians who referred patients for registry participation. These include: Amira Al-Uzri, Oregon Health and Science University, Portland, Oregon; Alungal, Jemshad, MES Medical College; Anders, Margarita, Hospital Alemán, Buenos Aires, Argentina; Ansell, R, Okotoks, Alberta, Canada; Armstrong, Lindsay NP, Children's Hosp, Philadelphia, PA; Azam, Nesreen, Clear Lake Peds Nephrology Clinic, Webster, TX; Banks, Mindy, Rocky Mt Pediatric, Denver, CO; Bates, Carlton, Children's Hosp of Pittsburgh; Baum, Michelle A., Boston Children's Hospital; Belostotsky, Vladimir, MD, McMaster Children’s Hospital, Hamilton, Ontario, Canada; Bhat, Adash, Roseville, CA; Bieber, Scott, Harborview, Seattle, WA; Blatt, Neal, University of Michigan; Brandi, Monica, Buenos Aires, Argentina; Braun, Michael, University of Texas, Texas; Brewer, Eileen, Baylor College of Medicine, Texas; Brown, Elizabeth, UT Southwestern Medical Center, Texas; Bunchman, Timothy, Children's Hospital of Richmond, Richmond, VA; Butani, Lavjay, UC Davis Medical Center, Sacramento, CA; Christine B. Sethna, Cohen Children's Medical Center-LIJ Health System, New Hyde Park, NY; Cynthia D'Alessandri-Silva and Samriti Dogra, Connecticut Children's Specialty Group, Hartford, CT; Christy Dunbar, B-L Family Practice, Leesville, SC; Cadnapaphornchai, Melissa, Rocky Mountain Hospital for Children at Presbyterian St Luke's Medical Center, Denver, CO; Calle, Juan, Cleveland Clinic, Cleveland, Ohio; Carlisle, Euan, St Joseph’s Hospital, Hamilton, Canada; Chadha, Vimal, VCU Medical Center, Richmond, Virginia; Chandra, Manju, Winthrop University Hospital, Long Island; Coe Fredric, University of Chicago, Chicago, IL; Copelovitch, Lawrence, Children's Hospital Of Philadelphia, Philadelphia, Pennsylvania; Craig B. Langman, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Danielle Soranno, Children's Hospital, University of Colorado, CO; Dean Assimos and Lisa Harvey, University of Alabama, Birmingham, AL; Dharshan Rangaswamy, Sanjay Gandhi Post Graduate Institute, Lucknow, India; D'Alessandri-Silva, Cynthia, CCMC, CT Children's Specialty Group; De Castro-Hamoy, Leniza, Philippine General Hospital, Manila, Philippines; Deitzer, Diane, Cleveland Clinic, Cleveland, Oh; Dibadj, Kourosh, Nephrology Associates of Northern Virginia; Dolezel, Zdenek, Czech Republic; Dukeminier, W. Mark, PeaceHealth South Clinic; Eidman, Keith, OD, Hennepin County Medical Center, Minneapolis, MN; El Fakky, Mohammed, King Fahad Specialist Hospital Dammam, Saudi Arabia; Eid, Loai Akram Ouda, Dubai, UAE; Fathalla-Shaykh, Sahar, Children's Hospital, Birmingham, AL; Ferris, Maria, University of North Carolina, NC; Friedman, Amy L., FACS, SUNY Upstate Med University, NY; Geary, Denis, MD, The Hospital for Sick Children, Toronto, Ontario, Canada; Grandas, Oscar, University of TN Knoxville Medical Center, TN; Gupta, Neena, UMass Memorial Center, MA; Guruprasad Shetty, Jupiter Hospital, Thane, India; Haddad, Maha, MD UC Davis Medical Center; Hanevold, Coral D., Seattle Children's Hospital; Harvey, Elizabeth, FRCPC, Hospital for Sick Children, Toronto, Canada; Hernandez, Joel Ditangkin, Southern California Permanente Medical Group; Holleman, Robert, USC School of Medicine/Palmetto Health; Hsieh, Stephanie, Phoenix Children's Hospital, AZ; Hughes, Christopher, University of Pittsburgh Medical Center, Pennsylvania; Hunley, Tray, Vanderbilt Children's Hospital; Isa Ashoor, Children's Hospital, New Orleans, LA; J. Bryan Carmody, Children's Hospital of The King's Daughters, Norfolk, VA; Justin Kastl, Sanford Children's Hospital, Sioux Falls, SD; Jeffrey Saland, Mount Sinai Medical Center, NY, NYJagadeesh, Sujatha, D, Mylapore, Chennai, India; Kamath, Nivedita, St John's Medical college Hospital, Bangalore, India; Kara, Tonya, Starship Children's Health, Auckland, New Zealand; Krieg, Christy, FNP, Indiana University Health Methodist/University Hospital, Indiana; Langman, Craig B, Ann & Robert H. Lurie Children's Hospital of Chicago; Lee, Marsha, UCSF Pediatric Kidney Transplant Program; Lawrence Greenbaum, Emory University School of Medicine, Children’s Healthcare of Atlanta, Atlanta, GA; Maria Vaisbich, University of São Paulo School of Medicine, Sao Paulo, Brazil; Majid Alfadehel, King Fahad National Guard Hospital, Saudi Arabia; Margret Bock, Children’s Hospital Colorado, Aurora, CO, Lorenzo Botto, University of Utah, Salt Lake City, UT; Michael Ferguson, Boston Children's Hospital, Boston, MA; Monico, Carla, Mississippi Baptist Medical Center, Mississippi; Muff-Luett, Melissa, University of Nebraska Medical Center, Children’s Hospital of Omaha; Mangalakumar Veerasamy, Kovai Medical Center and Hospital, Coimbatore, India; Mini Michael, Texas Medical Center, San Antonio, TX; Nauman Shahid, Vidant Medical Center, Greenville, NC; Nampoothiri, Sheela, Amrita Institute of Medical Sciences, Kerala, India; Pearl, Rachel, The Hospital for Sick Children, Toronto, Ontario, Canada; Pearle, Margaret S.,UT Southwestern Medical Center; Perinthalmanna, Kerala, India; Pollack, Ari, Seattle Children's Research Institute; Robinson, Lisa, Hospital for Sick Children, Toronto, Ontario; Rasheda Amin, Pediatric Specialists of Virginia, Fairfax, VA; Reem Raafat, Children’s Specialty Group, PLLC, Norfolk, VA; Rademacher, Erin, Golisano Children's Hospital University of Rochester; Sarah Dugan, Children's Hospital & Clinic of MN, Minneapolis, MN; Sethna, Christine, Cohen Children's Medical Center-LIJ Health System; Sharon Andreoli, Indiana University School Of Medicine, Indianapolis, IN; Sharon Perlman, All Children's Hospital, St Petersburg, FL; Shahmir, Ehsan, Nephrology Medical Associates of California; Shefali Vyas, Barnabas Health, Children's Kidney Center, Livingston, NJ; Spencer, John David, Nationwide Children’s Hospital, Columbus Ohio; Swinford, Rita D., the University of Texas at Houston Health Sciences Center; Tarif, Nauman, Fatima Memorial Hosp, Shadman Punjab, Lahore, Pakistan; Teruel, Mark, Fort Collins, CO; Troy Zabel, Colorado Kidney Care, Denver, CO; Torres, Gabriela, Portale Oriente, Ciudad de Mexico; Tuchman, Shamir, MPH, Children’s National Medical Center; Viprakasit, Davis, Catholic Univ of Chile, School of Medicine, Santiago, Chile; Vasishta Tatapudi, NYU Langone Medical Center, NY, NY; William E. Haley, Mayo Clinic, Jacksonville, FL; Warady, Brad, Children's Mercy Hospital, Kansas City, MO; Wong, Craig, MPH, UNM Children's Hospital, Albuquerque, NM; Wood, Ellen, SSM Health, St Louis University Hosp; Worcester, Elaine, University of Chicago Medicine, Chicago, IL.Metrics Author Information Muhammad G. Arnous Divison of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota More articles by this author Lisa Vaughan Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota More articles by this author Ramila A. Mehta Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota More articles by this author Phillip J. Schulte Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota More articles by this author John C. Lieske Divison of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota *Correspondence: Division of Nephrology and Hypertension, Mayo Clinic, 200 First St SW, Rochester, MN 55905 telephone: 507-266-7960; E-mail Address: [email protected] More articles by this author Dawn S. Milliner Divison of Nephrology and Hypertension, Mayo Clinic, Rochester, Minnesota Division of Pediatric Nephrology, Mayo Clinic, Rochester, Minnesota More articles by this author Expand All Support: Funding for this project was provided by U54-DK083908 from the National Institute of Diabetes and Digestive and Kidney Diseases, R21TR003174 from the National Center for Advancing Translational Sciences, and supported by an industry grant from Dicerna. The funding organizations had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; or preparation of the manuscript. The views expressed are those of the authors and not necessarily those of Dicerna. Conflict of Interest: PJS: OxThera. The remaining Authors have no conflicts of interest to disclose. Ethics Statement: This study received Institutional Review Board approval (IRB No. 11-001702). Advertisement PDF downloadLoading ...