medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.04.16-24medgen-428Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWНовые подходы к диагностике болезни Ниманна-Пика типа СNew approaches for diagnosis of Niemann-Pick disease type CДегтяреваА. В.DegtyarevaA. V.annadim@yahoo.comМихайловаС. В.MikhailovaS. V.noemail@neicon.ruЗахароваЕ. Ю.ZakharovaE. Y.noemail@neicon.ruПрошляковаТ. Ю.ProshlyakovaT. Y.noemail@neicon.ruАмирхановаД. Ю.AmirkhanovaD. Y.noemail@neicon.ruГотьеМ. С.GautierM. S.noemail@neicon.ruФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии им. Кулакова В.И.» Минздрава РФ; ФГАОУ ВО Первый Московский государственный медицинский университет им. И.М.Сеченова Минздрава РФРоссияV.I. Kulakov National Medical Research Center for Obstetrics, Gynecology And Perinatology; The Sechenov First Moscow State Medical UniversityRussian FederationФГБУ «Российская детская клиническая больница»РоссияRussian Children’s Clinical Hospital of Ministry of Health of RussiaRussian FederationФГБНУ «Медико-генетический научный центр»РоссияResearch Centre for Medical GeneticsRussian FederationФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии им. Кулакова В.И.» Минздрава РФРоссияV.I. Kulakov National Medical Research Center for Obstetrics, Gynecology And PerinatologyRussian Federation2018060620181741624Copyright © Дегтярева А.В., Михайлова С.В., Захарова Е.Ю., Прошлякова Т.Ю., Амирханова Д.Ю., Готье М.С., 20182018Дегтярева А.В., Михайлова С.В., Захарова Е.Ю., Прошлякова Т.Ю., Амирханова Д.Ю., Готье М.С.Degtyareva A.V., Mikhailova S.V., Zakharova E.Y., Proshlyakova T.Y., Amirkhanova D.Y., Gautier M.S.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/428

Болезнь Ниманна-Пика типа С (НП-С) представляет собой редкое аутосомно-рецессивное нейродегенеративное заболевание, истинная частота которого недооценивается из-за неспецифичности клинических симптомов. Для болезни НП-C характерен выраженный клинический полиморфизм с различными сроками манифестации заболевания от внутриутробного и неонатального периода до взрослого возраста. В последние годы широкое использование биомаркеров для селективного скрининга и генетического тестирования с использованием панелей генов способствовало повышению доли пациентов, выявленных на ранних этапах развития болезни. В статье описаны наиболее значимые клинические проявления и их комбинации, а также обсуждаются изменения, внесенные в существующие клинические рекомендации по диагностике и лечению болезни НП-С.

Niemann-pick disease type C is a rare autosomal recessive neurodegenerative disorder, the real incidence of which has been underestimated because of not specific clinical symptoms. The clinical symptoms of NP-C are highly variable with different onset terms of manifestations from fetal and neonatal period to adulthood. In recent years there has been a growing use of biomarkers as a selective screening and panel genetic tests which contributed to the earlier detection of the disease in patients. The article contains the most important clinical manifestations and their combinations, as well as an update to the existing recommendations for clinical practice.

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