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Genitourinary Malformations in Chromosome 22q11.2 Deletion

2002; Lippincott Williams & Wilkins; Volume: 168; Issue: 6 Linguagem: Inglês

10.1016/s0022-5347(05)64215-2

1527-3792

Hsi‐Yang Wu, SUSAN L. RUSNACK, Richard D. Bellah, Natalie Plachter, Donna M. McDonald‐McGinn, Elaine H. Zackai, Douglas A. Canning,

Tissue Engineering and Regenerative Medicine

No AccessJournal of UrologyPEDIATRIC UROLOGY1 Dec 2002Genitourinary Malformations in Chromosome 22q11.2 Deletion HSI-YANG WU, SUSAN L. RUSNACK, RICHARD D. BELLAH, NATALIE PLACHTER, DONNA M. McDONALD-McGINN, ELAINE H. ZACKAI, and DOUGLAS A. CANNING HSI-YANG WUHSI-YANG WU , SUSAN L. RUSNACKSUSAN L. RUSNACK , RICHARD D. BELLAHRICHARD D. BELLAH , NATALIE PLACHTERNATALIE PLACHTER , DONNA M. McDONALD-McGINNDONNA M. McDONALD-McGINN , ELAINE H. ZACKAIELAINE H. ZACKAI , and DOUGLAS A. CANNINGDOUGLAS A. CANNING View All Author Informationhttps://doi.org/10.1016/S0022-5347(05)64215-2AboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract Purpose: We reviewed our experience with genitourinary malformations associated with chromosome 22q11.2 deletion. Materials and Methods: We retrospectively reviewed patient intake charts at the 22q clinic at our institution. We assessed 73 renal/bladder ultrasounds and 7 autopsies performed between 1998 and 2000 for renal and bladder malformations. A total of 149 male patients were evaluated for possible testicular and urethral malformations. Results: Of 80 patients 25 (31%) had a structural urinary tract anomaly. Another 8 patients had renal agenesis or multicystic dysplastic kidney, 4 had hydronephrosis and 5 had vesicoureteral reflux or an irregular bladder, while 8 of 73 (11%) had dysfunctional voiding, 9 of 149 (6%) had undescended testes and 12 of 149 (8%) had hypospadias. Conclusions: Screening renal/bladder ultrasound, careful voiding history and medical but not surgical therapy are recommended for renal and bladder anomalies associated with 22q11.2 deletion. The need for surgery for cryptorchidism and hypospadias is slightly higher than in the general population. References 1 : The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns1999; 10: 11. Google Scholar 2 : Renal and urological tract malformations caused by a 22q11 deletion. J Med Genet1996; 33: 349. Google Scholar 3 : Increased incidence of renal anomalies in patients with chromosome 22q11 microdeletion. Teratology1999; 59: 20. Google Scholar 4 : Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet1997; 34: 798. Google Scholar 5 : Anomalies of the kidney. In: . New York: Mosby Co.1996: 2172. Google Scholar 6 : Anomalies of the kidney. In: . New York: Mosby Co.1996: 2184. Google Scholar 7 : Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion. Am J Med Genet1999; 85: 127. Google Scholar 8 : Prevalence and natural history of cryptorchidism. Pediatrics1993; 92: 44. Google Scholar 9 : Hypospadias trends in two US surveillance systems. Pediatrics1997; 100: 831. Google Scholar From the Divisions of Pediatric Urology, Radiology and Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania© 2002 by American Urological Association, Inc.FiguresReferencesRelatedDetails Volume 168Issue 6December 2002Page: 2564-2565 Advertisement Copyright & Permissions© 2002 by American Urological Association, Inc.Keywordsurogenital abnormalitieskidneyurogenital systemgene expressionchromosome deletionMetricsAuthor Information HSI-YANG WU More articles by this author SUSAN L. RUSNACK More articles by this author RICHARD D. BELLAH More articles by this author NATALIE PLACHTER More articles by this author DONNA M. McDONALD-McGINN More articles by this author ELAINE H. ZACKAI More articles by this author DOUGLAS A. CANNING More articles by this author Expand All Advertisement PDF downloadLoading ...