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• W2045731696 abstract "No AccessJournal of UrologyPediatric urology1 Nov 2007Urological Counseling and Followup in Pediatric Tuberous Sclerosis Complex Marco Castagnetti, Beatrice Vezzù, AnnaMaria Laverda, Sandra Zampieri, and Waifro Rigamonti Marco CastagnettiMarco Castagnetti Section of Pediatric Urology, Department of Urology, University Hospital of Padua, Padua, Italy More articles by this author , Beatrice VezzùBeatrice Vezzù Section of Pediatric Urology, Department of Urology, University Hospital of Padua, Padua, Italy More articles by this author , AnnaMaria LaverdaAnnaMaria Laverda Department of Pediatrics, University of Padua, Padua, Italy More articles by this author , Sandra ZampieriSandra Zampieri Department of Pediatrics, University of Padua, Padua, Italy More articles by this author , and Waifro RigamontiWaifro Rigamonti Section of Pediatric Urology, Department of Urology, University Hospital of Padua, Padua, Italy More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2007.07.058AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: We review our experience with renal manifestations in pediatric patients with the tuberous sclerosis complex, and offer recommendations for urological counseling, followup and treatment of these patients. Materials and Methods: We reviewed clinical notes on 41 patients with the tuberous sclerosis complex followed at our institution from childhood. Patient data were gathered in a database focusing on renal involvement. The latter was assessed by periodic clinical evaluations and ultrasound. The risk of renal involvement was evaluated in relation to patient age, genotypic pattern and number of extrarenal manifestations. Results: Overall, 15 patients (36.6%) had renal involvement. The latter increased with age and was more common in cases with TSC2 genotypic pattern or multiple extrarenal manifestations. Angiomyolipomas were the most common lesions (11 patients), followed by renal cysts (2) and polycystic kidney disease (2). Cystic lesions were the most common in patients younger than 16 years. Renal failure developed in the 2 patients with polycystic kidney disease by the 2nd decade of life. Overall, treatment was required in 2 cases of symptomatic angiomyolipoma. Both patients were female, and had multiple extrarenal manifestations and bilateral renal involvement. One patient underwent open surgery at age 21.3 years and 1 underwent radiological embolization at age 23.4 years. Conclusions: Pediatric patients with the tuberous sclerosis complex should undergo urological evaluation and followup. Although most of the lesions remain silent during childhood, the incidence of renal involvement increases with age. The need for treatment is highest in females with multiple extrarenal manifestations and bilateral renal involvement. References 1 : Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet2001; 68: 64. Google Scholar 2 : The tuberous sclerosis complex and its highly variable manifestations. J Urol2003; 169: 1635. Link, Google Scholar 3 : An epidemiological study of renal pathology in tuberous sclerosis complex. 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Link, Google Scholar © 2007 by American Urological AssociationFiguresReferencesRelatedDetailsCited byWarncke J, Brodie K, Grantham E, Catarinicchia S, Tong S, Kondo K and Cost N (2016) Pediatric Renal Angiomyolipomas in Tuberous Sclerosis ComplexJournal of Urology, VOL. 197, NO. 2, (500-506), Online publication date: 1-Feb-2017.Laguna M (2018) Re: Everolimus for Angiomyolipoma Associated with Tuberous Sclerosis Complex or Sporadic Lymphangioleiomyomatosis (EXIST-2): A Multicentre, Randomised, Double-Blind, Placebo-Controlled TrialJournal of Urology, VOL. 191, NO. 3, (626-627), Online publication date: 1-Mar-2014. Volume 178Issue 5November 2007Page: 2155-2159 Advertisement Copyright & Permissions© 2007 by American Urological AssociationKeywordspolycystic kidney diseasescystsangiomyolipomakidney neoplasmstuberous sclerosisMetricsAuthor Information Marco Castagnetti Section of Pediatric Urology, Department of Urology, University Hospital of Padua, Padua, Italy More articles by this author Beatrice Vezzù Section of Pediatric Urology, Department of Urology, University Hospital of Padua, Padua, Italy More articles by this author AnnaMaria Laverda Department of Pediatrics, University of Padua, Padua, Italy More articles by this author Sandra Zampieri Department of Pediatrics, University of Padua, Padua, Italy More articles by this author Waifro Rigamonti Section of Pediatric Urology, Department of Urology, University Hospital of Padua, Padua, Italy More articles by this author Expand All Advertisement PDF downloadLoading ..." @default.
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