Congenital genitourinary abnormalities in children with Williams-Beuren syndrome

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorSAMMOUR, Zein M.
dc.contributor.authorGOMES, Cristiano M.
dc.contributor.authorBESSA JR., Jose de
dc.contributor.authorPINHEIRO, Marcello S.
dc.contributor.authorKIM, Chong A. E.
dc.contributor.authorHISANO, Marcelo
dc.contributor.authorBRUSCHINI, Homero
dc.contributor.authorSROUGI, Miguel
dc.date.accessioned2015-04-22T22:15:12Z
dc.date.available2015-04-22T22:15:12Z
dc.date.issued2014
dc.description.abstractObjective: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. Patients with WBS usually show a group of features such as developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. Abdominal wall defects, external genitalia anomalies, and structural abnormalities of the urinary tract have been scarcely evaluated and were the focus of our study. Materials and methods: We prospectively evaluated 41 boys and 38 girls with WBS, with a mean age of 8.8 +/- 4.1 (range 3-19 years). All patients were examined for the evaluation of inguinal and umbilical hernias and genital anomalies. All patients were offered a radiological evaluation, including urinary tract ultrasound, voiding cystourethrogram, and dimercaptosuccinic acid renal scintigraphy (DMSA scan). Results: Of the 41 boys, 30 (73.1%) had abnormalities on physical examination, including bilateral undescended testis in 13 (31.7%), retractile testis in four (9.7%), hypospadias in four (9.7%), and unilateral cryptorchidism in three (7.3%) patients. Of the 38 female subjects, 17 (44.7%) had at least one abnormality, including umbilical hernia in 11 (28.9%), unilateral inguinal hernia in four (10.5%), and bilateral inguinal hernia in three (7.8%) patients. Uroradiological abnormalities were found in 41 patients (51.9%). On sonography, six (7.6%) patients had unilateral hydronephrosis, three (3.8%) had a duplicated collecting system, and two (2.5%) had kidney stones. On DMSA, performed in 36 patients, four (11.1%) had unilateral renal scarring and two (5.5%) had bilateral renal scarring. Cystourethrography was obtained from 56 patients, of whom 27 (48.2%) had bladder diverticulum, 18 (32.1%) had bladder wall trabeculation, and three (5.3%) had vesicoureteral reflux. We found no association of urological abnormalities with cardiovascular defects. Conclusions: Patients with WBS have a high prevalence of abdominal wall, external genitalia, and urological abnormalities, emphasizing the importance of proper physical examination and radiological investigation in this population.
dc.description.indexMEDLINE
dc.identifier.citationJOURNAL OF PEDIATRIC UROLOGY, v.10, n.5, p.804-809, 2014
dc.identifier.doi10.1016/j.jpurol.2014.01.013
dc.identifier.eissn1873-4898
dc.identifier.issn1477-5131
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/9033
dc.language.isoeng
dc.publisherELSEVIER SCI LTD
dc.relation.ispartofJournal of Pediatric Urology
dc.rightsrestrictedAccess
dc.rights.holderCopyright ELSEVIER SCI LTD
dc.subjectWilliams syndrome
dc.subjectChildren
dc.subjectPhenotype
dc.subjectPhysical examination
dc.subjectDiagnostic imaging
dc.subjectBladder diverticulum
dc.subject.othervoiding dysfunction
dc.subject.otherrenal abnormalities
dc.subject.otherurinary symptoms
dc.subject.otherelastin locus
dc.subject.otherfish analysis
dc.subject.otherdiagnosis
dc.subject.otherdisorder
dc.subject.otherbladder
dc.subject.otherhemizygosity
dc.subject.otherprevalence
dc.subject.wosPediatrics
dc.subject.wosUrology & Nephrology
dc.titleCongenital genitourinary abnormalities in children with Williams-Beuren syndrome
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.citation.scopus21
hcfmusp.contributor.author-fmusphcZEIN MOHAMED SAMMOUR
hcfmusp.contributor.author-fmusphcCRISTIANO MENDES GOMES
hcfmusp.contributor.author-fmusphcJOSE DE BESSA JUNIOR
hcfmusp.contributor.author-fmusphcMARCELLO SANTOS PINHEIRO
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.contributor.author-fmusphcMARCELO HISANO
hcfmusp.contributor.author-fmusphcHOMERO BRUSCHINI
hcfmusp.contributor.author-fmusphcMIGUEL SROUGI
hcfmusp.description.beginpage804
hcfmusp.description.endpage809
hcfmusp.description.issue5
hcfmusp.description.volume10
hcfmusp.origemWOS
hcfmusp.origem.pubmed24582571
hcfmusp.origem.scopus2-s2.0-84922702008
hcfmusp.origem.wosWOS:000345116500004
hcfmusp.publisher.cityOXFORD
hcfmusp.publisher.countryENGLAND
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