Abstract
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.
Highlights
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
Клинически заболевание проявлялось двусторонним паховым крипторхизмом, женским строением гениталий в виде влагалища, двусторонней опухолью Вильмса без нефротического синдрома [12]
В одном случае у пациента с мутацией во 2-м экзоне и с нарушением формирования пола (кариотип 46 XY) онкологическая патология отсутствовала
Summary
Мутация гена WT1 в экзоне 7 у мальчика с нарушением формирования пола и двусторонней нефробластомой. 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. Мутация гена WT1 в 7-м экзоне у мальчика с нарушением формирования пола и двусторонней нефробластомой форм патологии с более тяжелым течением заболевания.
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