medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/2079-701X-2014-1-73-76medsovet-1226Research ArticleТРУДНЫЙ ДИАГНОЗDIFFICULT DIAGNOSISТрудный диагноз. Болезнь Ниманна - пика, тип СDifficult diagnosis. Niemann - Pick disease, type CНамазова-барановаЛ. С.Namazova-baranovaL. S.noemail@neicon.ruГеворкянА. К.GevorkyanA. K.noemail@neicon.ruВашакмадзеН. Д.VashakmadzeN. D.noemail@neicon.ruВысоцкаяЛ. С.VysotskayaL. S.noemail@neicon.ruМамедьяровА. М.MamedyarovA. M.noemail@neicon.ruМаргиеваТ. В.MargievaT. V.noemail@neicon.ruНаучный центр здоровья детей РАМН, Москва; Первый Московский государственный медицинский университет им. И.М. Сеченова; Российский научный исследовательский медицинский университет им. Н.И. Пирогова, МоскваРоссияScientific Center of Children's Health RAMS, Moscow ; First Moscow State Medical University named after I.M.Sechenov; Pirogov Russian National Research Medical University, MoscowRussian FederationНаучный центр здоровья детей РАМН, МоскваРоссияScientific Center of Children's Health RAMS, Moscow ; First Moscow State Medical University named after I.M.SechenovRussian FederationНаучный центр здоровья детей РАМН, МоскваРоссияScientific Center of Children's Health RAMS, MoscowRussian Federation201430122014017376Copyright © Намазова-баранова Л.С., Геворкян А.К., Вашакмадзе Н.Д., Высоцкая Л.С., Мамедьяров А.М., Маргиева Т.В., 20142014Намазова-баранова Л.С., Геворкян А.К., Вашакмадзе Н.Д., Высоцкая Л.С., Мамедьяров А.М., Маргиева Т.В.Namazova-baranova L.S., Gevorkyan A.K., Vashakmadze N.D., Vysotskaya L.S., Mamedyarov A.M., Margieva T.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-sovet.pro/jour/article/view/1226

В условиях современных диагностических возможностей и повышения уровня знаний врачей все чаще выявляют болезни, которые ранее считались крайне редкими. Наряду с достижениями фармакологической промышленности, своевременная диагностика и назначение адекватной терапии позволяют во многих случаях сохранить жизнь ребенку и замедлить прогрессирование болезни. Статья посвящена редкой, генетически обусловленной патологии из группы лизосомных болезней, наследуемой аутосомно-рецессивно, — болезни Ниманна - Пика, тип С. Подробно представлены варианты клинического течения и методы диагностики.

Modern diagnostic capabilities and improved medical knowledge allow to detect more diseases that were previously considered extremely rare. Along with the achievements of the pharmaceutical industry, timely diagnosis and adequate therapy often save the child's life and slow the progression of the disease. The article focuses on a rare genetic lysosomal storage disease which is inherited in autosomal recessive fashion - Niemann - Pick disease, type C. Types of clinical course and diagnostic methods are described in detail.

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