perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2026-71-3-102-111perinatology-2429Research ArticleВ ПОМОЩЬ ПРАКТИЧЕСКОМУ ВРАЧУFOR THE PRACTITIONERДефицит лизосомной кислой липазы: обзор литературы и клинические наблюденияLysosomal acid lipase deficiency in children: literature review and clinical observationshttps://orcid.org/0000-0002-5413-9599ВолынецГ. В.VolynetsG. V.

Волынец Галина Васильевна — заведующая отделом гастроэнтерологии; д.м.н., профессор кафедры инновационной педиатрии и детской хирургии

125412, г. Москва, ул. Талдомская, д. 2

125412, Moscow

117997, Moscow

volynec_g@mail.ruhttps://orcid.org/0000-0003-4905-2373ПотаповА. С.PotapovA. S.

Потапов Александр Сергеевич — д.м.н., профессор, начальник центра воспалительных заболеваний кишечника у детей, заведующий гастроэнтерологическим отделением

119991, г. Москва, Ломоносовский просп, д. 2, стр. 1

119991, Moscow

Научно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е. Вельтищева ФГАОУ ВО РНИМУ им. Н. И. Пирогова Минздрава России; Кафедра инновационной педиатрии и детской хирургии Института непрерывного образования и профессионального развития ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияVeltischev Research and Clinical Institute for pediatrics and pediatric surgery of the Pirogov Russian National Research Medical University; Department of Innovative Pediatrics and Pediatric Surgery of the Institute of Continuous Education and Professional Development of Pirogov Russian National Research Medical UniversityRussian FederationФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииРоссияNational Medical Research Center for Children’s HealthRussian Federation202621072026713102111Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20262026Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/2429

Фермент лизосомная кислая липаза, кодируемый геном LIPA, играет ключевую роль в метаболизме липидов в лизосомах. Мутации в гене LIPA, которых зарегистрировано около 120, приводят к полному или частичному отсутствию активности лизосомной кислой липазы. Это сопровождается накоплением сложных эфиров холестерина и триглицеридов в органах, прежде всего в печени и селезенке. Выделяются два типа основных фенотипических проявлений дефицита лизосомной кислой липазы: инфантильный дефицит лизосомной кислой липазы (болезнь Вольмана) и детский/взрослый вариант дефицита лизосомной кислой липазы (болезнь накопления эфиров холестерина). Диагноз дефицита лизосомной кислой липазы у детей и подростков должен быть установлен на ранней стадии заболевания, поскольку начало лечения влияет на качество жизни пациентов в долгосрочной перспективе. В статье рассматриваются оба фенотипа дефицита лизосомной кислой липазы, этиология, патогенез и подходы к терапии данного заболевания. Также приводится демонстрация клинических наблюдений пациентов с дефицитом лизосомной кислой липазы.

The enzyme lysosomal acid lipase, encoded by the LIPA gene, plays a key role in lipid metabolism in lysosomes. Mutations in the LIPA gene, of which about 120 have been registered, lead to a complete or partial absence of lysosomal acid lipase activity. This is accompanied by the accumulation of cholesterol esters and triglycerides in organs, primarily in the liver and spleen. There are two types of major phenotypic manifestations of lysosomal acid lipase deficiency: infantile lysosomal acid lipase deficiency (Wolman’s disease), and childhood/adult lysosomal acid lipase deficiency (cholesterol ester accumulation disease). The diagnosis of lysosomal acid lipase deficiency in children and adolescents should be established at an early stage of the disease, since the start of treatment affects the quality of life of patients in the long term. The article discusses both phenotypes of lysosomal acid lipase deficiency, etiology, pathogenesis, and approaches to the treatment of this disease. Clinical observations of patients with lysosomal acid lipase deficiency are also demonstrated.

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Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol. 2014;61(5):1135-42. DOI: 10.1016/j.jhep.2014.06.022Vijay S., Brassier A., Ghosh A., Fecarotta S., Abel F., Marulkar S. et al. Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies. Orphanet J Rare Dis. 2021;16(1):113. DOI: 10.1186/s13023-021-01753-0Vijay S., Brassier A., Ghosh A., Fecarotta S., Abel F., Marulkar S. et al. Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies. Orphanet J Rare Dis. 2021;16(1):113. DOI: 10.1186/s13023-021-01753-0Burton B.K., Feillet F., Furuya K.N., Marulkar S., Balwani M. Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study. J Hepatol. 2022;76(3):577-587. DOI: 10.1016/j.jhep.2021.10.026Burton B.K., Feillet F., Furuya K.N., Marulkar S., Balwani M. Sebelipase alfa in children and adults with lysosomal acid lipase deficiency: Final results of the ARISE study. J Hepatol. 2022;76(3):577-587. DOI: 10.1016/j.jhep.2021.10.026

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