Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press29410.17650/2073-8803-2019-14-2-23-28CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯGlucose transporter deficiency syndrome type 1: a case reportСиндром дефицита транспортера глюкозы I типа: клинический случайKulishE. A.КулишЕ. А.
Russian Federation

61/2 Shchepkina St., Moscow 129110

129110 Москва, ул. Щепкина, 61/2

https://orcid.org/0000-0003-2988-5706KotovA. S.КотовА. С.
Russian Federation

61/2 Shchepkina St., Moscow 129110

Алексей Сергеевич Котов

129110 Москва, ул. Щепкина, 61/2

alex-013@yandex.ruMukhinaE. V.МухинаЕ. В.
Russian Federation

61/2 Shchepkina St., Moscow 129110

129110 Москва, ул. Щепкина, 61/2

KotalevskayaY. Y.КоталевскаяЮ. Ю.
Russian Federation

61/2 Shchepkina St., Moscow 129110

129110 Москва, ул. Щепкина, 61/2

https://orcid.org/0000-0001-6497-8487SvetlichnayaD. V.СветличнаяД. В.
Russian Federation

61/2 Shchepkina St., Moscow 129110

129110 Москва, ул. Щепкина, 61/2

PanteleevaM. V.ПантелееваМ. В.
Russian Federation

61/2 Shchepkina St., Moscow 129110

129110 Москва, ул. Щепкина, 61/2

M.F. Vladimirsky Moscow Regional Research Clinical InstituteГБУЗ МО «Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского»1504201914223282807201928072019Copyright ©; 2019, ABV-PressCopyright ©; 2019, АБВ-пресс2019ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/294

The authors present a unique clinical observation of the case of a hereditary deficiency of a type 1 glucose transporter, also called de Vivo disease. The type 1 glucose transporter deficiency syndrome (OMIM: 606777, ORPHA: 71277) is an extremely rare genetic disease associated with mutations in the SCL2A gene encoding the transfer of glucose across the blood-brain barrier. The clinical case, given in the article, replenishes the piggy bank of genetically verified glucose transport disruption syndromes leading to the development of polymorphic neurological disorders. The syndrome is most often inherited by an autosomal dominant pathway, but rare cases of autosomal recessive transmission are known. About 500 clinical cases of the present syndrome are described, although, according to various authors, the number of clinically verified cases not confirmed by genetic verification is much higher. In addition to the given data of the clinical course of the disease, detailed results of the genetic interpretation of the hereditary syndrome are given, the modern method of pathogenetic therapy is considered – the ketogenic diet.

Авторы представляют уникальное клиническое наблюдение случая наследственного дефицита транспортера глюкозы I типа, также именуемого болезнью де Виво. Синдром дефицита транспортера глюкозы I типа (OMIM: 606 777, ORPHA: 71 277) – редкое генетическое заболевание, связанное с мутациями в гене SCL2A, кодирующем перенос глюкозы через гематоэнцефалический барьер. Клинический случай, приводимый в статье, пополняет копилку генетически верифицированных синдромов нарушения транспорта глюкозы, приводящих к развитию полиморфных неврологических нарушений. Синдром чаще всего наследуется аутосомно-доминантным путем, однако известны и редкие примеры аутосомно-рецессивной передачи. Описано около 500 клинических случаев настоящего синдрома, хотя, по мнению разных авторов, число клинически верифицированных случаев, не подтвержденных генетическим исследованием, значительно выше. Помимо данных клинического течения заболевания приведены подробные результаты генетической интерпретации наследственного синдрома, рассмотрен современный метод патогенетической терапии – кетогенная диета.

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