medsovetМедицинский СоветMeditsinskiy sovet = Medical Council2079-701X2658-5790REMEDIUM GROUP Ltd.10.21518/2079-701X-2018-2-238-241medsovet-2320Research ArticleТРУДНЫЙ ДИАГНОЗDIFFICULT DIAGNOSISДефицит лизосомной кислой липазы: болезнь накопления эфиров холестерина у ребенка раннего возраста. Клинический случайTHE DISEASE IS THE ACCUMULATION OF CHOLESTEROL ESTERS DUE TO DEFICIT OF LYSOSOMAL ACID LIPASE. CLINICAL CASE OF LYSOSOMAL ACID LIPASE DEFICIENCY IS DESCRIBED IN THIS ARTICLEЛоскутоваС. А.LoskutovaS. A.

Доктор медицинских наук

MD

БелоусоваТ. В.BelousovaT. V.

Доктор медицинских наук, профессор

MD, Prof.

НикулинаА. Б.NikulinaA. B.Новосибирский государственный медицинский университет Минздрава РоссииРоссияNovosibirsk state medical UniversityRussian Federation20181402201802238241Copyright © Лоскутова С.А., Белоусова Т.В., Никулина А.Б., 20182018Лоскутова С.А., Белоусова Т.В., Никулина А.Б.Loskutova S.A., Belousova T.V., Nikulina A.B.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/2320

Дефицит лизосомной кислой липазы – орфанное заболевание, интерес к которому в последние годы обусловлен возможностью проведения ферментной заместительной терапии. В статье представлен клинический случай верификации дефицита лизосомной кислой липазы в виде частой ее формы – болезни накопления эфиров холестерина у ребенка 5-летнего возраста.

Lysosomal acid lipase deficiency (LAL D) is an orphan disease connected with accumulation of cholesterol estersin different organs, interest to this disease increased due to the possibility of enzyme replacement therapy. The article presents a clinical case of verification of LAL D in a child 5 years of age.

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