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Педиатрическая фармакология

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РЕКОМЕНДАЦИИ ПО ДИАГНОСТИКЕ И ТАКТИКЕ ВЕДЕНИЯ БОЛЕЗНИ НИМАННА–ПИКА ТИП С

https://doi.org/10.15690/pf.v9i6.520

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Аннотация

Болезнь Ниманна–Пика тип С (НП-С) является редким наследственным нейровисцеральным заболеванием, обусловленным мутациями в гене NPC1 (в 95% случаев) или в гене NPC2 (около 5% случаев), что ведет к нарушению внутриклеточного транспорта липидов, накоплению холестерина и гликосфинголипидов в головном мозге и других тканях. Среди характерных неврологических проявлений болезни НП-С: нарушение саккадических движений глаз или вертикальный надъядерный паралич взора, мозжечковые проявления (атаксия, дистония/дисметрия, дизартрия и дисфагия) и геластическая катаплексия. У пациентов часто наблюдаются эпилептические приступы. Считается, что начало неврологических и психиатрических симптомов приходится на детский возраст, однако, в настоящее время все чаще диагностируют болезнь в зрелом возрасте в связи с поздним ее дебютом. Распределение пациентов по возрасту манифестации неврологических проявлений (начало заболевания в пре/перинатальном периоде, раннем детском, старшем детском, ювенильном и подростковом/взрослом возрасте) может быть полезным для оценки течения заболевания и ответа на лечение. Первое международное руководство по клиническому ведению болезни НП-С у детей и взрослых было опубликовано в 2009 г. С тех пор было получено значительное количество данных по эпидемиологии, определению/диагностике и лечению болезни НП-С. В данной публикации приведено единое мнение экспертов по диагностике и лечению болезни НП-С, выработанное в ходе очередного совещания в Париже (Франция) в сентябре 2011 г. В статье приведены обновления к оригинальным методическим рекомендациям, дополнения к определению, диагностике, потенциально новым методам мониторинга прогрессирования болезни, а также пересмотру целей лечения с применением специфической терапии препаратом миглустат.

Об авторах

Л. М. Кузенкова
Научный центр здоровья детей РАМН, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская Федерация
Россия

доктор медицинских наук, профессор, заведующая отделением психоневрологии Научного центра здоровья детей РАМН



Л. С. Намазова-Баранова
Научный центр здоровья детей РАМН, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская Федерация Российский национальный исследовательский медицинский университет им. Н.И. Пирогова, Москва, Российская Федерация


А. К. Геворкян
Научный центр здоровья детей РАМН, Москва, Российская Федерация Первый Московский государственный медицинский университет им. И.М. Сеченова, Москва, Российская Федерация


Т. В. Подклетнова
Научный центр здоровья детей РАМН, Москва, Российская Федерация
Россия


А. М. Мамедъяров
Научный центр здоровья детей РАМН, Москва, Российская Федерация
Россия


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Для цитирования:


Кузенкова Л.М., Намазова-Баранова Л.С., Геворкян А.К., Подклетнова Т.В., Мамедъяров А.М. РЕКОМЕНДАЦИИ ПО ДИАГНОСТИКЕ И ТАКТИКЕ ВЕДЕНИЯ БОЛЕЗНИ НИМАННА–ПИКА ТИП С. Педиатрическая фармакология. 2012;9(6):61-70. https://doi.org/10.15690/pf.v9i6.520

For citation:


Kuzenkova L.M., Namazova-Baranova L.S., Gevorkyan A.K., Podkletnova T.V., Mamedyarov A.M. RECOMMENDATIONS ON DIAGNOSTICS AND TACTICS OF MANAGEMENT OF NIEMANN-PICK DISEASE, TYPE C. Pediatric pharmacology. 2012;9(6):61-70. (In Russ.) https://doi.org/10.15690/pf.v9i6.520

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