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• W2806606422 abstract "No AccessJournal of UrologyPediatric Urology1 Nov 2018Lower Urinary Tract Dysfunction and Associated Pons Volume in Patients with Wolfram Syndrome Kyle O. Rove, Gino J. Vricella, Tamara Hershey, Muang H. Thu, Heather M. Lugar, Joel Vetter, Bess A. Marshall, and Paul F. Austin Kyle O. RoveKyle O. Rove Division of Pediatric Urology, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri More articles by this author , Gino J. VricellaGino J. Vricella Division of Pediatric Urology, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri More articles by this author , Tamara HersheyTamara Hershey Department of Neurology and Radiology, Washington University School of Medicine, St. Louis, Missouri More articles by this author , Muang H. ThuMuang H. Thu Division of Pediatric Urology, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri More articles by this author , Heather M. LugarHeather M. Lugar Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri More articles by this author , Joel VetterJoel Vetter Division of Pediatric Urology, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri More articles by this author , Bess A. MarshallBess A. Marshall Departments of Pediatrics and Cell Biology, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri More articles by this author , and Paul F. AustinPaul F. Austin Scott Department of Urology, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2018.06.002AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: Wolfram syndrome is a neurodegenerative disorder characterized by childhood onset diabetes mellitus, optic nerve atrophy, diabetes insipidus, hearing impairment, and commonly bladder and bowel dysfunction. We hypothesized that there is an association between a smaller pons, which contains the pontine micturition center, and abnormal lower urinary tract function. Materials and Methods: Patients with genetically confirmed Wolfram syndrome attended an annual multidisciplinary research clinic. Subjects underwent noninvasive urodynamic testing and brain magnetic resonance imaging, and completed validated patient reported outcome measures. Bowel and bladder diaries were completed before visits. Age and gender corrected linear and logistic mixed effects models were used to correlate pons volume, corrected for whole brain size, to urodynamic and patient reported outcomes. Results: A total of 36 patients attended 142 visits between 2010 and 2016. Mean age was 16.9 years (range 7 to 30) and 64% of patients were female. Functional bladder capacity was decreased in 31% of the patients, normal in 54% and increased in 14%. Of the patients 44% and 54% had abnormal uroflowmetry and post-void residual, respectively, on at least 1 occasion. There was no increase through time in incidence of lower urinary tract dysfunction. Decreased pons volume was associated with increased post-void residual (p = 0.048) and higher PinQ (Pediatric Incontinence Questionnaire) score (p = 0.011), indicating lower quality of life and higher levels of dysfunction. Conclusions: A significant number of children, adolescents and young adults with Wolfram syndrome have objective evidence of lower urinary tract dysfunction. Decreased pons volume is associated with more abnormal urinary function and lower quality of life in patients with Wolfram syndrome. References 1 : Diabetes mellitus and simple optic atrophy among siblings: report of four cases. Mayo Clinic Proc1938; 13: 715. Google Scholar 2 : Phenotypic characteristics of early Wolfram syndrome. Orphanet J Rare Dis2013; 8: 64. Google Scholar 3 : Optic atrophy in Wolfram (DIDMOAD) syndrome. Eye (Lond)1997; 11: 882. Google Scholar 4 : The neural control of micturition. Nat Rev Neurosci2008; 9: 453. Google Scholar 5 : Organization of the neural switching circuitry underlying reflex micturition. Acta Physiol (Oxf)2013; 207: 66. Google Scholar 6 : Early brain vulnerability in Wolfram syndrome. PLoS One2012; 7: e40604. 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Volume 200Issue 5November 2018Page: 1107-1113 Advertisement Copyright & Permissions© 2018 by American Urological Association Education and Research, Inc.KeywordsurodynamicsWolfram syndromeurinationurination disordersAcknowledgmentsWashington University Wolfram Syndrome Research Group members, including P. Austin, B. Beato, E. Bihun, G. Earhart, S. Eisenstein, J. Hoekel, A. Licis, H. Lugar, L. Manwaring, T. Pearson, Y. Pepino de Gruev, A. Permutt (deceased), A. Reiersen, J. Rutlin, J. Shimony, L. Tychsen, F. Urano, J. Wasson (deceased) and N. H. White, Washington University School of Medicine; R. Karzon, St. Louis Children’s Hospital; A. R. Paciorkowski, University of Rochester Medical Center; K. Pickett, University of Wisconsin; and A. Viehoever, University of California, San Francisco, assisted with the study.MetricsAuthor Information Kyle O. Rove Division of Pediatric Urology, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri More articles by this author Gino J. Vricella Division of Pediatric Urology, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri More articles by this author Tamara Hershey Department of Neurology and Radiology, Washington University School of Medicine, St. Louis, Missouri More articles by this author Muang H. Thu Division of Pediatric Urology, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri More articles by this author Heather M. Lugar Department of Psychiatry, Washington University School of Medicine, St. Louis, Missouri More articles by this author Joel Vetter Division of Pediatric Urology, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri More articles by this author Bess A. Marshall Departments of Pediatrics and Cell Biology, St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri More articles by this author Paul F. Austin Scott Department of Urology, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas More articles by this author Expand All Advertisement PDF downloadLoading ..." @default.
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