<i>WT1</i> gene mutation in exone 7 in boy with disturbance of the sex formation and the bilateral nephroblastoma

• Main Authors: N. R. Akramov, I. V. Osipova, A. M. Zakirova, E. I. Khaertdinov, E. L. Rashitova
• Format: Article
• Language: Russian
• Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2020-01-01
• Series: Rossijskij Vestnik Perinatologii i Pediatrii
• Subjects: children; wt1 gene mutation; bilateral nephroblastoma
• Online Access: https://www.ped-perinatology.ru/jour/article/view/1025

The case of observing a patient with WT1 gene mutation in exone 7 with bilateral Wilms metachronous tumor, disturbance of the sex formation in the form of scrotal hypospadias and bilateral abdominal cryptorchidism, without nephropathy, is presented. The child underwent surgical operations: left-sided nephrectomy, resection of the lower pole of the right kidney, bilateral orchiopexy and two-stage hypospadias correction. 7 years after the start of treatment and 3 years after the final operation, the condition of the child was estimated as satisfactory. The presented case by the results of the molecular genetic study has no previously described analogues and requires further observation.