Role of Pediatric Nephrologist in Williams Syndrome: care from childhood to adulthood

Role of Pediatric Nephrologist in Williams Syndrome: care from childhood to adulthood | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Research Article Role of Pediatric Nephrologist in Williams Syndrome: care from childhood to adulthood Arianna Moroni, Hector Rios, Carmen Larramendi, Amaia Lasa, Irene Valenzuela, and 3 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-5699451/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Williams syndrome is a relatively rare genetic disorder caused by the deletion of a segment of DNA on chromosome 7q11.23, which encodes the protein elastin. It is characterized by a distinctive clinical phenotype, with key features including cardiovascular abnormalities, facial features and intellectual disability, along with associated endocrine, urological and gastrointestinal manifestations. This retrospective observational study evaluates 68 individuals (15 children and 53 adults) diagnosed with Williams syndrome who are under follow-up at our center. The objectives of this study are to analyze the clinical manifestations, examine the natural history of the disease with potential differences between pediatric and adult presentations, and underscore the role of pediatric nephrology in the multidisciplinary management of these patients. Renal involvement was assessed based on the presence or absence of arterial hypertension, hypercalcemia, hypercalciuria, nephrocardiosis, urinary tract abnormalities, glomerular renal function, and symptoms such as enuresis. The rates of kidney involvement were generally similar between the two age groups in our sample, with the exception of hypertension, which affected nearly half of the children but only about 20% of adults. This study emphasizes the importance of including pediatric nephrologists as key members of the multidisciplinary team managing patients with Williams syndrome. Williams syndrome pediatric nephrologist hypercalcemia arterial hypertension kidney involvement Full Text Supplementary Files GraphicalAbstract.pdf Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-5699451","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Research Article","associatedPublications":[],"authors":[{"id":397901345,"identity":"ae939b1e-5d07-4f2d-ba55-0db31e1427f5","order_by":0,"name":"Arianna 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