Pediatrik Üroloji ile İlgili Sendromlar
Özet
Pediatrik yaş grubunda karşılaşılan genetik sendromların önemli bir bölümü, renal ve genitoüriner sistem anomalileriyle birlikte seyreder. Bu sendromlar, sadece belirli organ sistemlerini değil, çoğunlukla çoklu sistemleri etkileyen kompleks yapılar sunar. Bu bölümde, nadir görülen fakat klinik olarak oldukça önemli olan; Prune Belly, Rubinstein-Taybi, Vacterl, Wagr, Hand-Foot-Genital, Opitz-G, Wolf-Hirchhorn, Denys-Drash ve Frasier Sendromu gibi çeşitli sendromların ürogenital sistem üzerindeki etkileri ele alınmaktadır. Bahsi geçen sendromlar, doğuştan böbrek malformasyonlarından hipospadiasa, vezikoüreteral reflüden kriptorşidizme kadar geniş bir patolojik yelpazede bulgular ortaya koyar. Bu bulgular, tanı, tedavi ve uzun dönemli izlem açısından multidisipliner yaklaşımın gerekliliğini ortaya koymaktadır.
Referanslar
Arlen AM, Nawaf C, Kirsch AJ. Prune belly syndrome: current perspectives. Pediatric Health Med Ther. 2019;10:75-81.
Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet. 2006;14(9):981-5.
Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003;119a(2):101-10.
Quan L, Smith DW. The VATER association. Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J Pediatr. 1973;82(1):104-7.
Solomon BD. VACTERL/VATER Association. Orphanet J Rare Dis. 2011;6:56.
Czeizel A, Ludányi I. An aetiological study of the VACTERL-association. Eur J Pediatr. 1985;144(4):331-7.
Solomon BD, Pineda-Alvarez DE, Raam MS, Bous SM, Keaton AA, Vélez JI, et al. Analysis of component findings in 79 patients diagnosed with VACTERL association. Am J Med Genet A. 2010;152a(9):2236-44.
Breslow NE, Norris R, Norkool PA, Kang T, Beckwith JB, Perlman EJ, et al. Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group. J Clin Oncol. 2003;21(24):4579-85.
Scott RH, Stiller CA, Walker L, Rahman N. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet. 2006;43(9):705-15.
Hol JA, Jongmans MCJ, Sudour-Bonnange H, Ramírez-Villar GL, Chowdhury T, Rechnitzer C, et al. Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30-year SIOP-RTSG experience. Cancer. 2021;127(4):628-38.
Köhler B, Schumacher V, Schulte-Overberg U, Biewald W, Lennert T, l'Allemand D, et al. Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. Pediatr Res. 1999;45(2):187-90.
Innis JW. Hand-Foot-Genital Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®). Seattle (WA): University of Washington, Seattle Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993.
Ahmed F, Altam A, Alyhari Q, Badheeb M, Aljbri W, Al-Wageeh S, et al. Surgical management of penoscrotal hypospadias in a child with Opitz G/BBB syndrome: a case report. Pan Afr Med J. 2023;44:103.
Rjiba K, Ayech H, Kraiem O, Slimani W, Jelloul A, Ben Hadj Hmida I, et al. Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene. Mol Cytogenet. 2021;14(1):12.
Yang Y, Zhao F, Tu X, Yu Z. Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome. Genet Mol Res. 2016;15(1):15017559.
Roca N, Muñoz M, Cruz A, Vilalta R, Lara E, Ariceta G. Long-term outcome in a case series of Denys-Drash syndrome. Clin Kidney J. 2019;12(6):836-9.
Ezaki J, Hashimoto K, Asano T, Kanda S, Akioka Y, Hattori M, et al. Gonadal tumor in Frasier syndrome: a review and classification. Cancer Prev Res (Phila). 2015;8(4):271-6.
