Congenital genitourinary abnormalities in children with Williams-Beuren syndrome

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art_SAMMOUR_Congenital_genitourinary_abnormalities_in_children_with_WilliamsBeuren_syndrome_2014.PDF (421.38 KB)
Citações na Scopus
21
Tipo de produção
article
Data de publicação
2014
DOI
Scopus
Web of Science
PubMed
Título da Revista
ISSN da Revista
Título do Volume
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ELSEVIER SCI LTD
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Citação
JOURNAL OF PEDIATRIC UROLOGY, v.10, n.5, p.804-809, 2014
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Objective: 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.
Palavras-chave
Williams syndrome, Children, Phenotype, Physical examination, Diagnostic imaging, Bladder diverticulum
URI
https://observatorio.fm.usp.br/handle/OPI/9033
Referências
  1. BABBITT DP, 1979, PEDIATR RADIOL, V8, P29, DOI 10.1007/BF00973674
  2. Barrett SV, 2008, CLIN ONCOL-UK, V20, P90, DOI 10.1016/j.clon.2007.08.003
  3. Bedeschi MF, 2011, AM J MED GENET A, V155A, P353, DOI 10.1002/ajmg.a.33819
  4. BIESECKER LG, 1987, AM J MED GENET, V28, P131, DOI 10.1002/ajmg.1320280119
  5. BORG I, 1995, J MED GENET, V32, P692, DOI 10.1136/jmg.32.9.692
  6. Brandt ML, 2008, SURG CLIN N AM, V88, P27, DOI 10.1016/j.suc.2007.11.006
  7. Brouwers MM, 2012, J PEDIATR UROL, V8, P59, DOI 10.1016/j.jpurol.2010.11.001
  8. CORTIVO R, 1981, BRIT J UROL, V53, P134, DOI 10.1111/j.1464-410X.1981.tb03151.x
  9. DANIELS SR, 1985, J PEDIATR, V106, P249, DOI 10.1016/S0022-3476(85)80297-3
  10. Elcioglu N, 1998, ACTA PAEDIATR, V87, P48, DOI 10.1080/08035259850157868
  11. EWART AK, 1993, NAT GENET, V5, P11, DOI 10.1038/ng0993-11
  12. EWART AK, 1993, P NATL ACAD SCI USA, V90, P3226, DOI 10.1073/pnas.90.8.3226
  13. Fall I, 2006, PEDIATR SURG INT, V22, P233, DOI 10.1007/s00383-006-1634-7
  14. Game X, 2010, NEW ENGL J MED, V362, P1449, DOI 10.1056/NEJMc1001965
  15. Hensle TW, 2012, UROL CLIN N AM, V39, P109, DOI 10.1016/j.ucl.2011.09.002
  16. Inan M, 2008, UROL INT, V80, P166, DOI 10.1159/000112608
  17. INGELFINGER JR, 1991, J PEDIATR, V119, P771, DOI 10.1016/S0022-3476(05)80299-9
  18. LOWERY MC, 1995, AM J HUM GENET, V57, P49
  19. Meier DE, 2001, WORLD J SURG, V25, P645
  20. MORRIS CA, 1988, J PEDIATR, V113, P318, DOI 10.1016/S0022-3476(88)80272-5
  21. MURAKUMO M, 1995, J UROLOGY, V154, P251, DOI 10.1016/S0022-5347(01)67289-6
  22. Osborne LR, 1999, MOL GENET METAB, V67, P1, DOI 10.1006/mgme.1999.2844
  23. Pankau R, 1996, AM J MED GENET, V63, P301, DOI 10.1002/(SICI)1096-8628(19960503)63:1<301::AID-AJMG49>3.0.CO;2-P
  24. POBER BR, 1993, AM J MED GENET, V46, P271, DOI 10.1002/ajmg.1320460306
  25. Pober BR, 2010, NEW ENGL J MED, V362, P239, DOI 10.1056/NEJMra0903074
  26. Pober BR, 2007, AM J MED GENET C, V145C, P280, DOI 10.1002/ajmg.c.30139
  27. PREUS M, 1984, CLIN GENET, V25, P422
  28. Sammour ZM, 2012, J UROLOGY, V188, P253, DOI 10.1016/j.juro.2012.03.024
  29. Sammour ZM, 2006, J UROLOGY, V175, P1472, DOI 10.1016/S0022-5347(05)00666-X
  30. Schulman SL, 1996, J PEDIATR, V129, P466, DOI 10.1016/S0022-3476(96)70086-0
  31. Sforzini Cinzia, 2002, Pediatric Nephrology, V17, P899
  32. STOERMER J, 1984, MONATSSCHR KINDERH, V132, P2
  33. Sugayama Sofia Mizuho Miura, 2004, Rev Hosp Clin Fac Med Sao Paulo, V59, P266
  34. SUZUKI Y, 1992, J PEDIATR, V121, P667, DOI 10.1016/S0022-3476(05)81175-8
  35. Waxler JL, 2009, PEDIATR ANN, V38, P456, DOI [10.3928/00904481-20090723-10, 10.3280/0904481-20090723-10]

Coleções
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - FM/MCG
Artigos e Materiais de Revistas Científicas - HC/ICHC
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - HC/IMREA
Artigos e Materiais de Revistas Científicas - HC/IOT
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