Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press47510.17650/2222-8721-2022-12-1-39-48ORIGINAL REPORTSОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯNeurofibromatosis: analysis of clinical cases and new diagnostic criteriaНейрофиброматоз: анализ клинических случаев и новые диагностические критерииhttps://orcid.org/0000-0003-2441-8818MakashovaE. S.МакашоваЕ. С.
Russian Federation

Elizaveta Sergeevna Makashova

4‑ya Tverskaya-Yamskaya St., Moscow 125047

86 Shosse Entuziastov, Moscow 111123

Елизавета Сергеевна Макашова

125047 Москва, ул. 4‑я Тверская-Ямская, 16

111123 Москва, шоссе Энтузиастов, 86

emakashova@nsi.ruhttps://orcid.org/0000-0003-2919-9458KarandashevaK. O.КарандашеваК. О.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

https://orcid.org/0000-0001-8893-3830ZolotovaS. V.ЗолотоваС. В.
Russian Federation

4‑ya Tverskaya-Yamskaya St., Moscow 125047

125047 Москва, ул. 4‑я Тверская-Ямская, 16

https://orcid.org/0000-0003-4728-1498GinzbergM. A.ГинзбергМ. А.
Russian Federation

80 Volokolamskoe Shosse, Moscow 125367

125367 Москва, Волоколамское шоссе, 80

DorofeevaM. Yu.ДорофееваМ. Ю.
Russian Federation

Taldomskaya St., Moscow 125412

125412 Москва, ул. Талдомская, 2

https://orcid.org/0000-0002-1436-0010GalkinM. V.ГалкинМ. В.
Russian Federation

4‑ya Tverskaya-Yamskaya St., Moscow 125047

125047 Москва, ул. 4‑я Тверская-Ямская, 16

https://orcid.org/0000-0002-0976-4547GolanovA. V.ГолановА. В.
Russian Federation

4‑ya Tverskaya-Yamskaya St., Moscow 125047

125047 Москва, ул. 4‑я Тверская-Ямская, 16

National Medical Research Center for NeurosurgeryФГАУ «Национальный медицинский исследовательский центр нейрохирургии им. Н. Н. Бурденко» Минздрава РоссииLoginov Moscow Clinical Scientific CenterГБУЗ «Московский клинический научно-практический центр им. А. С. Логинова» Департамента здравоохранения г. МосквыResearch Centre for Medical GeneticsФГБНУ «Медико-генетический научный центр им. акад. Н. П. Бочкова»Research Center of NeurologyФГБНУ «Научный центр неврологии»Research Clinical Pediatric Institute of Pirogov Russian National Research Medical UniversityОСП «Научно-исследовательский клинический институт педиатрии им. акад. Ю. Е. Вельтищева» ФГБОУ ВО РНИМУ им. Н. И. Пирогова1402202212139481402202214022022Copyright ©; 2022, Makashova E.S., Karandasheva K.O., Zolotova S.V., Ginzberg M.A., Dorofeeva M.Y., Galkin M.V., Golanov A.V.Copyright ©; 2022, Макашова Е.С., Карандашева К.О., Золотова С.В., Гинзберг М.А., Дорофеева М.Ю., Галкин М.В., Голанов А.В.2022Makashova E.S., Karandasheva K.O., Zolotova S.V., Ginzberg M.A., Dorofeeva M.Y., Galkin M.V., Golanov A.V.Макашова Е.С., Карандашева К.О., Золотова С.В., Гинзберг М.А., Дорофеева М.Ю., Галкин М.В., Голанов А.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/475

Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The group includes three entities: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis, which are characterized by gradual phenotype development and have a partially overlapping spectrum of manifestations, which complicates diagnosis establishing, especially at the stage of clinical onset. At the same time, the emergence of new pathogenetic therapy and the high risk of transmission to descendants actualize the necessity of early diagnosis. DNA tests allow us to reliably confirm the presumed diagnosis. This article presents a review of neurofibromatoses, their clinical features and courses, modern diagnostic criteria and indications for DNA tests.

Нейрофиброматозы – группа наследственных заболеваний, которые характеризуются развитием опухолей центральной и периферической нервной системы. Включают 3 нозологии: нейрофиброматоз I типа, нейрофиброматоз II типа и шванноматоз. Эти заболевания отличаются динамическим развитием и имеют схожие клинические проявления, что осложняет постановку клинического диагноза, особенно на этапе клинического дебюта. В то же время появление новых методов патогенетической терапии и высокий риск передачи заболевания потомству обусловливают необходимость ранней диагностики. Одним из методов подтверждения предполагаемого диагноза является молекулярно-генетическое тестирование. В данной статье приведен анализ данных литературы, посвященных особенностям клинического течения нейрофиброматозов, актуальные диагностические критерии, а также показания к проведению молекулярно-генетической диагностики.

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