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Sindrom WAGR - prikaz slučaja

By Mirta Starčević and Marina Mataija

Abstract

Congenital anomaly syndrome consisting of Wilms tumor, aniridia, genitourinary malformations and mental retardation (WAGR) is a rare, sporadic genetic disorder characterized by a de novo deletion in the distal band of llp13 chromosome. The syndrome is usually recognized by sporadic aniridia present at birth, often followed by the development of Wilms tumor in early childhood, but possible at any age. Genetic testing using fluorescence in situ hybridization (FISH) is the method of choice to detect specific deletions. The multidisciplinary approach in medical treatment not only of the tumor, but of a large variety of clinical features and possible complications is highly demanding and challenging. We report on a boy born with aniridia, cryptorchidism and facial dysmorphism recognized as WAGR syndrome in neonatal period, subsequently confirmed by genetic testing. Wilms tumor developed at the age of one year. Surgical treatment and chemotherapy resulted in complete remission for almost six years now. However, an increased risk of late post-treatment complications and development of de novo tumor in the contralateral kidney is a permanent threat. Therefore, ongoing oncologic follow up along with ophthalmologic and neurologic treatment and psychological support are a lifelong necessity.Sindrom WAGR je rijedak genetski poremećaj sporadične pojavnosti koji se klinički prezentira Wilmsovim tumorom, aniridijom, genitourinarnim anomalijama i mentalnom retardacijom. Obilježen je de novo delecijom u distalnom kraku 11. kromosoma u regiji 11 p13, a dokazuje se genetskim ispitivanjem metodom fluorescentne in situ hibridizacije (FISH). Sindrom se najčešće prepoznaje po aniridiji prisutnoj kod rođenja, dok se Wilmsov tumor obično razvija tijekom ranog djetinjstva, no moguće je u bilo kojoj životnoj dobi. Multidisciplinski pristup je nužan u liječenju ne samo tumora, nego i raznolikih kliničkih obilježja i mogućih komplikacija sindroma koji čine poseban terapijski izazov. Prikazujemo slučaj dječaka kod kojeg je sindrom WAGR prepoznat u novorođenačkoj dobi na temelju kliničkih obilježja (aniridija, facijalna dizmorfija, kriptorhizam), a potvrđen kasnijim genetičkim testiranjem. Unatoč redovitim kontrolama Wilmsov tumor je otkriven već u uznapredovalom stadiju u dobi od 14 mjeseci. Nakon provedenog kirurškog liječenja i kemoterapije uslijedila je potpuna remisija koja traje gotovo šest godina. Međutim, zbog rizika od kasnih poslijeterapijskih komplikacija te razvoja de novo tumora u preostalom, kontralateralom bubregu redovite onkološke kontrole su doživotna nužnost, kao i trajna oftalmološka, neurološka i psihološka skrb

Topics: Aniridia - genetics; Aniridia - neoplasms; UMGR syndrome - complications; WAGR syndrome - diagnosis; UMGR syndrome - pathology; Chromosome aberrations; Kidney neoplasms; Child; Case report, Aniridija - genetika; Aniridija - novotvorine; Sindrom UMGR - komplikacije; Sindrom WAGR - dijagnostika; Sindrom WAGR - patologija; Kromosomske aberacije; Novotvorine bubrega; Dijete; Prikaz slučaja
Publisher: Sestre Milosrdnice University hospital and Institute of Clinical Medical Research
Year: 2009
OAI identifier: oai:hrcak.srce.hr:49871

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