ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v20i4.2602ppharm-2342Research ArticleКЛИНИЧЕСКИЕ РЕКОМЕНДАЦИИCLINICAL RECOMMENDATIONSКлинические рекомендации по ведению детей с дефицитом лизосомной кислой липазыClinical guidelines for the management of children with lysosomal acid lipase deficiencyАнисимоваИ. В.AnisimovaInga V.

Москва

Moscow

https://orcid.org/0000-0001-7833-7648АлбеговаМ. Б.AlbegovaMarina B.

Москва

Moscow

https://orcid.org/0000-0002-1752-6901БагаеваМ. Э.BagaevaMadlena E.

Москва

Moscow

https://orcid.org/0000-0001-8806-5287БайдаковаГ. В.BaidakovaGalina V.

Москва

Moscow

https://orcid.org/0000-0003-3987-8112БарановА. А.BaranovAleksandr A.

Москва

Moscow

https://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Москва

Moscow

https://orcid.org/0000-0001-7398-0562ВишневаЕ. А.VishnevaElena A.

Москва

Moscow

ГундобинаО. С.GundobinaOlga S.

Москва

Moscow

https://orcid.org/0000-0003-0822-751XДегтяреваА. В.DegtiarevaAnna V.

Москва

Moscow

https://orcid.org/0000-0002-1518-6552ЕжовМ. В.EzhovMarat V.

Москва

Moscow

https://orcid.org/0000-0003-3352-8197ЖарковаМ. С.ZharkovaMaria S.

Москва

Moscow

https://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNataliia V.

Москва

Moscow

https://orcid.org/0000-0002-5020-1180ЗахароваЕ. Ю.ZaharovaEkaterina Yu.

Москва

Moscow

https://orcid.org/0000-0002-6815-6015ИвашкинВ. Т.IvashkinVladimir T.

Москва

Moscow

КаменецЕ. А.KamenetsElena A.

Москва

Moscow

https://orcid.org/0000-0002-3133-8018КуцевС. И.KutzevSergey I.

Москва

Moscow

https://orcid.org/0000-0002-0447-214XЛавроваА. Е.LavrovaAlla E.

Нижний Новгород

Nizhny Novgorod

https://orcid.org/0000-0002-7049-446XМатинянИ. А.MatinianIrina A.

Москва

Moscow

https://orcid.org/0000-0002-2115-985XМихайловаС. В.MikhailovaSvetlana V.

Москва

Moscow

https://orcid.org/0000-0002-2209-7531Намазова-БарановаЛ. С.Namazova-BaranovaLeyla S.

Намазова-Баранова Лейла Сеймуровна - доктор медицинских наук, профессор, академик РАН, заведующая кафедрой факультетской педиатрии педиатрического факультета ФГБОУ ВО «РНИМУ им. Н.И. Пирогова» Минздрава России; руководитель НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского», президент Союза педиатров России.

119333, Москва, ул. Фотиевой, д. 10

тел.: +7 (499) 400-47-33

Moscow

lsnamazova@yandex.ruhttps://orcid.org/0000-0002-0871-429XПашковаИ. Е.PashkovaIrina E.

Москва

Moscow

https://orcid.org/0000-0002-8520-2378ПетряйкинаЕ. Е.PetriaykinaElena E.

Москва

Moscow

https://orcid.org/0000-0002-7514-2260ПервунинаТ. М.PervuninaTatiana M.

Санкт-Петербург

Saint Petersburg

https://orcid.org/0000-0002-2445-132XПечатниковаН. Л.PechatnikovaNataliia L.

Москва

Moscow

ПогосянН. С.PogosianNelia S.

Москва

Moscow

https://orcid.org/0000-0001-5244-3901РепинаС. А.RepinaSvetlana A.

Москва

Moscow

https://orcid.org/0000-0002-3678-7939СелимзяноваЛ. Р.SelimzianovaLilia R.

Москва

Moscow

https://orcid.org/0000-0002-6525-8665СкворцоваТ. А.SkvortsovaTamara A.

Москва

Moscow

https://orcid.org/0000-0002-0762-0873СтроковаТ. В.StrokovaTatiana V.

Москва

Moscow

СубботинД. М.SubbotinDmitriy M.

Москва

Moscow

https://orcid.org/0000-0002-3697-4283СурковА. Н.SurkovAndrey N.

Москва

Moscow

https://orcid.org/0000-0003-1149-4061ТумановаЕ. Л.TumanovaElena L.

Москва

Moscow

https://orcid.org/0000-0001-7388-2006ЦимбаловаЕ. Г.TzimbalovaEkaterina G.

Москва

Moscow

МГНЦ им. акад. Н.П. БочковаРоссияN.P. Bochkov Medical Genetics Research CentreRussian FederationНМИЦ акушерства, гинекологии и перинатологии им. акад. В.И. КулаковаРоссияV.I. Kulakov National Medical Scientific Centre of Obstetrics, Gynaecology and Perinatal MedicineRussian FederationФИЦ питания и биотехнологииРоссияFederal Research Centre of Nutrition, Biotechnology and Food SafetyRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; Первый МГМУ им. И.М. Сеченова (Сеченовский университет)РоссияResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov Moscow Medical AcademyRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; N.I. Pirogov Russian National Research Medical UniversityRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»РоссияResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of SurgeryRussian FederationНМИЦ акушерства, гинекологии и перинатологии им. акад. В.И. Кулакова; Первый МГМУ им. И.М. Сеченова (Сеченовский университет)РоссияV.I. Kulakov National Medical Scientific Centre of Obstetrics, Gynaecology and Perinatal Medicine; I.M. Sechenov Moscow Medical AcademyRussian FederationНИИ клинической кардиологии им. А.Л. Мясникова ФГБУ «НМИЦК»РоссияA.L. Miasnikov Scientific Research Institute of Clinical Cardiology of National Medical Research Center of CardiologyRussian FederationПервый МГМУ им. И.М. Сеченова (Сеченовский университет)РоссияI.M. Sechenov Moscow Medical AcademyRussian FederationПИМУРоссияPrivolzhsky Research Medical UniversityRussian FederationРДКБРоссияRussian Children's Clinical HospitalRussian FederationНМИЦ ТИО им. акад. В.И. ШумаковаРоссияV.I. Shumakov National Medical Research Centre of Transplantology and Artificial OrgansRussian FederationРНИМУ им. Н.И. Пирогова; РДКБ; РУДНРоссияN.I. Pirogov Russian National Research Medical University; Russian Children's Clinical Hospital; Peoples' Friendship University of RussiaRussian FederationНМИЦ им. В.А. АлмазоваРоссияV.A. Almazov National Medical Research CentreRussian FederationМорозовская ДГКБ ДЗМРоссияMorozov Children's City Clinical HospitalRussian FederationВсероссийское общество орфанных заболеванийРоссияAll Russia Association of the Orphan DiseasesRussian FederationНИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского»; Первый МГМУ им. И.М. Сеченова (Сеченовский университет); РНИМУ им. Н.И. ПироговаРоссияResearch Institute of Pediatrics and Children's Health in Petrovsky National Research Centre of Surgery; I.M. Sechenov Moscow Medical Academy; N.I. Pirogov Russian National Research Medical UniversityRussian FederationРНИМУ им. Н.И. ПироговаРоссияN.I. Pirogov Russian National Research Medical UniversityRussian Federation202322082023204337354Copyright © Анисимова И.В., Албегова М.Б., Багаева М.Э., Байдакова Г.В., Баранов А.А., Вашакмадзе Н.Д., Вишнева Е.А., Гундобина О.С., Дегтярева А.В., Ежов М.В., Жаркова М.С., Журкова Н.В., Захарова Е.Ю., Ивашкин В.Т., Каменец Е.А., Куцев С.И., Лаврова А.Е., Матинян И.А., Михайлова С.В., Намазова-Баранова Л.С., Пашкова И.Е., Петряйкина Е.Е., Первунина Т.М., Печатникова Н.Л., Погосян Н.С., Репина С.А., Селимзянова Л.Р., Скворцова Т.А., Строкова Т.В., Субботин Д.М., Сурков А.Н., Туманова Е.Л., Цимбалова Е.Г., 20232023Анисимова И.В., Албегова М.Б., Багаева М.Э., Байдакова Г.В., Баранов А.А., Вашакмадзе Н.Д., Вишнева Е.А., Гундобина О.С., Дегтярева А.В., Ежов М.В., Жаркова М.С., Журкова Н.В., Захарова Е.Ю., Ивашкин В.Т., Каменец Е.А., Куцев С.И., Лаврова А.Е., Матинян И.А., Михайлова С.В., Намазова-Баранова Л.С., Пашкова И.Е., Петряйкина Е.Е., Первунина Т.М., Печатникова Н.Л., Погосян Н.С., Репина С.А., Селимзянова Л.Р., Скворцова Т.А., Строкова Т.В., Субботин Д.М., Сурков А.Н., Туманова Е.Л., Цимбалова Е.Г.Anisimova I.V., Albegova M.B., Bagaeva M.E., Baidakova G.V., Baranov A.A., Vashakmadze N.D., Vishneva E.A., Gundobina O.S., Degtiareva A.V., Ezhov M.V., Zharkova M.S., Zhurkova N.V., Zaharova E.Y., Ivashkin V.T., Kamenets E.A., Kutzev S.I., Lavrova A.E., Matinian I.A., Mikhailova S.V., Namazova-Baranova L.S., Pashkova I.E., Petriaykina E.E., Pervunina T.M., Pechatnikova N.L., Pogosian N.S., Repina S.A., Selimzianova L.R., Skvortsova T.A., Strokova T.V., Subbotin D.M., Surkov A.N., Tumanova E.L., Tzimbalova E.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pedpharma.ru/jour/article/view/2342

Дефицит лизосомной кислой липазы — редкая наследственная ферментопатия. В статье представлены эпидемиологические данные и особенности этиопатогенеза двух фенотипических форм дефицита лизосомной кислой липазы — болезни Вольмана и болезни накопления эфиров холестерина. Подробно описаны клинические характеристики быстропрогрессирующей формы и медленно развивающейся болезни накопления эфиров холестерина. Особое внимание уделено ключевым вопросам дифференциально-диагностического поиска, приведены рекомендации по лечению, основанные на принципах доказательной медицины.

Lysosomal acid lipase deficiency is s a rare hereditary enzymopathy. The article presents epidemiological data and features of etiopathogenesis of two phenotypic forms of lysosomal acid lipase deficiency — Wolman disease and cholesterol ester storage disease. Special attention has been given to the key issues of differential diagnostic search, clinical guidelines based on the principles of evidence-based medicine have been given.

дефицит лизосомной кислой липазыболезнь Вольманаболезнь накопления эфиров холестеринадиагностикалечениеферментозаместительная терапиядетиlysosomal acid lipase deficiencyWolman diseasecholesterol ester storage diseasediagnosticsmanagementenzyme replacement therapychildrenОтсутствует.Not specified.ReferencesValayannopoulos V, Mengel E, Brassier A, Grabowski G. Lysosomal acid lipase deficiency: Expanding differential diagnosis. Mol Genet Metab. 2017;120(1-2):62-66. doi: https://doi.org/10.1016/j.ymgme.2016.11.002Valayannopoulos V, Mengel E, Brassier A, Grabowski G. Lysosomal acid lipase deficiency: Expanding differential diagnosis. Mol Genet Metab. 2017;120(1-2):62-66. doi: https://doi.org/10.1016/j.ymgme.2016.11.002Bernstein DL, Hulkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. 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The authors declare that there are no conflicts of interest present.