Herediter Geçişli Sendromlar
Özet
Ürolojide herediter geçişli sendromlar, yalnızca genetik ve sistemik özellikleriyle değil, aynı zamanda oluşturdukları üriner sistem anomalileri, gonadal disfonksiyonlar ve tümör yatkınlıkları ile de önem taşımaktadır. Bu sendromların tanınması, hem ürolojik cerrahi planlamasında hem de uzun dönem izlemde kritik rol oynar. Prader–Willi sendromunda hipogonadizm, Bardet–Biedl sendromunda renal malformasyon ve böbrek yetmezliği, Noonan sendromunda genital anomaliler, XYY sendromunda üreme fonksiyonları ile ilişkili değişiklikler ve Beckwith–Wiedemann sendromunda özellikle Wilms tümörü riski ürolojik açıdan dikkatle izlenmesi gereken durumlardır. Bu bölümde söz konusu herediter sendromların ürolojik yönleri ele alınacaktır.
Referanslar
Butler MG. Prader‐Willi syndrome: Current understanding of cause and diagnosis. American journal of medical genetics. 1990;35(3):319-32.
Butler MG, Lee PD, Whitman BY. Management of Prader-Willi Syndrome: Springer Nature; 2022.
Driscoll DJ, Miller JL, Schwartz S, Cassidy SB. Prader-willi syndrome. 2017.
McCandless SE, Cassidy SB. Prader–Willi Syndrome. Cassidy and Allanson's Management of Genetic Syndromes. 2021:735-61.
Abdilla Y, Barbara MA, Calleja-Agius J. Prader-Willi Syndrome: Background and Management. Neonatal Network. 2017;36(3).
Emerick JE, Vogt KS. Endocrine manifestations and management of Prader-Willi syndrome. International journal of pediatric endocrinology. 2013;2013(1):14.
Jin D-K. Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment. Korean journal of pediatrics. 2012;55(7):224.
Driscoll DJ, Miller JL, Cassidy SB. Prader-Willi Syndrome: University of Washington, Seattle, Seattle (WA); 1993 1993.
Forsythe E, Beales PL. Bardet–biedl syndrome. European journal of human genetics. 2013;21(1):8-13.
Suspitsin EN, Imyanitov EN. Bardet-Biedl Syndrome. Molecular Syndromology. 2016;7(2):62-71.
Patel MM, Tsiokas L. Insights into the regulation of ciliary disassembly. Cells. 2021;10(11):2977.
Melluso A, Secondulfo F, Capolongo G, Capasso G, Zacchia M. Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook. Therapeutics and Clinical Risk Management. 2023;19(null):115-32.
Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. The Lancet. 2013;381(9863):333-42.
Van der Burgt I. Noonan syndrome. Orphanet journal of rare diseases. 2007;2(1):4.
Allanson JE. Noonan syndrome. Journal of medical genetics. 1987;24(1):9.
Bhambhani V, Muenke M. Noonan syndrome. American family physician. 2014;89(1):37.
Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126(4):746-59.
Marcus KA, Sweep CG, van der Burgt I, Noordam C. Impaired Sertoli cell function in males diagnosed with Noonan syndrome. J Pediatr Endocrinol Metab. 2008;21(11):1079-84.
Parker CE, Melyk J, Fish CH. The XYY syndrome. Am J Med. 1969;47(5):801-8.
Kim IW, Khadilkar AC, Ko EY, Sabanegh ES, Jr. 47,XYY Syndrome and Male Infertility. Rev Urol. 2013;15(4):188-96.
Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, et al. 47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment. The Journal of Pediatrics. 2013;163(4):1085-94.
Armata NN. XYY Syndrome.
Zou C, Yu D, Geng H, Lan X, Sun W. A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review. BMC Urol. 2022;22(1):16.
Weksberg R, Shuman C, Beckwith JB. Beckwith–wiedemann syndrome. European journal of human genetics. 2010;18(1):8-14.
Choufani S, Shuman C, Weksberg R, editors. Beckwith–Wiedemann syndrome. American Journal of Medical Genetics Part C: Seminars in Medical Genetics; 2010: Wiley Online Library.
Wang KH, Kupa J, Duffy KA, Kalish JM. Diagnosis and management of Beckwith-Wiedemann syndrome. Frontiers in pediatrics. 2020;7:562.
Borer JG, Kaefer M, Barnewolt CE, Elias ER, Hobbs N, Retic AB, et al. RENAL FINDINGS ON RADIOLOGICAL FOLLOWUP OF PATIENTS WITH BECKWITH-WIEDEMANN SYNDROME. The Journal of Urology. 1999;161(1):235-9.
