perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2019-64-6-94-97perinatology-1025Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESМутация гена WT1 в 7-м экзоне у мальчика с нарушением формирования пола и двусторонней нефробластомойWT1 gene mutation in exone 7 in boy with disturbance of the sex formation and the bilateral nephroblastomahttps://orcid.org/0000-0001-6076-0181АкрамовН. Р.AkramovN. R.

Акрамов Наиль Рамилович – д.м.н., проф., гл. науч. сотр. Республиканской клинической больницы, проф. кафедры детской хирургии Казанского государственного медицинского университета

Казань

Kazan

https://orcid.org/0000-0001-9833-5156ОсиповаИ. В.OsipovaI. V.

Осипова Ильсия Вагизовна – зав. отделением онкогематологии 

420138 Казань, ул. Оренбургский тракт, д. 140

Kazan

https://orcid.org/0000-0003-2976-0807ЗакироваА. М.ZakirovaA. M.

Закирова Альфия Мидхатовна – к.м.н., доц. кафедры пропедевтики детских болезней и факультетской педиатрии 

Казань

Kazan

azakiroval@gmail.comhttps://orcid.org/0000-0001-8776-0325ХаертдиновЭ. И.KhaertdinovE. I.

Хаертдинов Эльмир Ильшатович – асп. кафедры детской хирургии

Казань

Kazan

https://orcid.org/0000-0003-1450-8254РашитоваЭ. Л.RashitovaE. L.

Рашитова Элина Ленаровна – препаратор кафедры пропедевтики детских болезней и факультетской педиатрии 

420012, Казань, ул. Бутлерова, д. 49

Kazan

ГАУЗ «Республиканская клиническая больница» Минздрава Республики Татарстан; ФГАОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииРоссияRepublican Clinical Hospital of the Ministry of Health of the Republic of Tatarstan; Kazan State Medical University of the Ministry of Health of the Russian FederationRussian FederationГАУЗ «Детская республиканская клиническая больница» Минздрава Республики ТатарстанРоссияChildren’s Republican Clinical Hospital of the Ministry of Health of the Republic of TatarstanRussian FederationФГАОУ ВО «Казанский государственный медицинский университет» Минздрава РоссииРоссияKazan State Medical University of the Ministry of Health of the Russian FederationRussian FederationФГАОУ ВО «Казанский государственный медицинский университет» Минздрава России; ГАУЗ «Детская республиканская клиническая больница» Минздрава Республики ТатарстанРоссияKazan State Medical University of the Ministry of Health of the Russian Federation; Children’s Republican Clinical Hospital of the Ministry of Health of the Republic of TatarstanRussian Federation2019160120206469497Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20202020Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1025

Представлен случай наблюдения пациента с мутацией в 7-м экзоне гена WT1 с двусторонней метахронной опухолью Вильмса, нарушением формирования пола в виде мошоночной формы гипоспадии и двустороннего абдоминального крипторхизма, без нефропатии. Ребенку были выполнены хирургические операции: левостороння нефрэктомия, резекция нижнего полюса правой почки, двустороння орхопексия и двухэтапная коррекция гипоспадии. Через 7 лет от начала лечения и через 3 года после завершающей операции состояние ребенка оценено как удовлетворительное. Представленный случай по результатам проведенного молекулярно-генетического исследования не имеет ранее описанных аналогов и требует дальнейшего наблюдения.

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.

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The authors declare that there are no conflicts of interest present.