Дефицит лизосомальной кислой липазы — недооцененная причина дислипидемии. Что нового?

Авторы:
  • О. Ш. Ойноткинова
    ФГБОУ ВО «Московский государственный университет им. М.В. Ломоносова», Москва, Россия; ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия; НИИ организации здравоохранения и медицинского менеджмента Департамента здравоохранения Москвы, Россия, Москва
  • Е. Л. Никонов
    ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия
  • А. П. Баранов
    ФГБОУ ВО «Московский государственный университет им. М.В. Ломоносова», Москва, Россия; ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия
  • Е. В. Крюков
    ФГБУ «Главный военный клинический госпиталь им. Н.Н. Бурденко» Минобороны России, Москва, Россия
  • М. А. Дорошко
    ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия; НИИ организации здравоохранения и медицинского менеджмента Департамента здравоохранения Москвы, Россия, Москва
Журнал: Доказательная гастроэнтерология. 2018;7(4): 65-80
Просмотрено: 906 Скачано: 99
Дефицит лизосомальной кислой липазы (ДЛКЛ) — это лизосомная болезнь накопления в результате мутации гена, кодирующего кислую липазу (лизосомный фермент, осуществляющий гидролиз эфиров холестерина и триглицеридов на уровне гепатоцитов). Основным клиническим проявлением ДЛКЛ является прогрессирующее поражение печени с развитием гепатомегалии, повышением уровня трансаминаз и/или микровезикулярного или смешанного стеатоза, вследствие накопления эфиров холестерина и триглицеридов в гепатоцитах и клетках Купфера. ДЛКЛ представляет собой угрожающее жизни генетическое заболевание, связанное со значительной морбидностью и повышенным риском преждевременной смерти. Ранняя диагностика лиц с ДЛКЛ имеет важное значение для патогенетической терапии. Педиатры, терапевты и врачи общей практики, липидологи, гастроэнтерологи и гепатологи, вероятнее всего, столкнутся с ДЛКЛ в клинической практике и должны знать симптомы болезни и ее сердечно-сосудистые, печеночные и метаболические осложнения. Ограниченный эффект статинов в качестве предупреждения развития и прогрессирования атеросклеротического процесса у больных с ДЛКЛ свидетельствует о необходимости применения альтернативных видов лечения заболевания. Назначение Себелипазы альфа является специфическим патогенетическим терапевтическим подходом, который может изменить естественный ход заболевания. Себелипаза альфа является рекомбинантной человеческой лизосомальной кислой липазой и катализирует гидролиз эфиров холестерина и триглицеридов, предотвращая их накопление в лизосомах клеток и восстанавливая нормальную функцию органов. Данная статья представляет собой обзор современной научно-практической литературы и последних исследований в этой области, а также раскрывает клиническую значимость ДЛКЛ в системе современного отечественного здравоохранения.
Ключевые слова:
  • дислипидемия
  • дефицит лизосомальной кислой липазы
  • холестерин
  • липидология
  • болезнь Вольмана

КАК ЦИТИРОВАТЬ:

Ойноткинова О.Ш., Никонов Е.Л., Баранов А.П., Крюков Е.В., Дорошко М.А. Дефицит лизосомальной кислой липазы — недооцененная причина дислипидемии. Что нового?. Доказательная гастроэнтерология. 2018;7(4):65-80. https://doi.org/10.17116/dokgastro2018704165

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