title: Billateral polycystic kidneys in a girl with WAGR syndrome.
abstract: The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genito-urinary abnormalities, and mental retardation. An 8.5-year-old girl was initially investigated at the age of 18 months for congenital bilateral aniridia, cataracts, glaucoma and epicantus. The ultrasound (US) scan showed polycystic kidney disease. FISH study revealed deletion of the WT1 and PAX6 gene in the 11p13 WAGR region. Forty days after the first kidney US, the second US revealed a 3 cm tumor in the right kidney: a Wilms tumour, treated successfully with the Wilm's tumor protocol. The authors conclude that the identification of the deletions in the WAGR region in patients with aniridia should definitely be done. In addition, Wilms tumor can have a very rapid growth, which, per se requires frequent and careful ultrasound kidney controls. Polycystic kidneys can be part of the WAGR presentation.
authors.affiliation: University Children´s Hospital, Medical Faculty Skopje, 50 Divizija BB, 1000 Skopje, Macedonia. gucevz@gmail.com
authors.forename: Zoran
authors.initials: Z
authors.lastname: Gucev
authors.forename: Olivera
authors.initials: O
authors.lastname: Muratovska
authors.forename: Nevenka
authors.initials: N
authors.lastname: Laban
authors.forename: Lence
authors.initials: L
authors.lastname: Misevska
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jancevska
authors.forename: John
authors.initials: J
authors.lastname: Crolla
authors.forename: Velibor
authors.initials: V
authors.lastname: Tasic
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D014463:Ultrasonography; D017624:WAGR Syndrome / Q000235:genetics*; D009396:Wilms Tumor / Q000000981:diagnostic imaging / Q000235:genetics