medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2025.01.3-12medgen-2599Research ArticleНАУЧНЫЙ ОБЗОРREVIEWКлинические проявления и современные подходы к диагностике и терапии недостаточности кислой сфингомиелиназы (болезни Ниманна–Пика тип АВ)Clinical characteristics and modern approaches to diagnostics and therapy of acid sphingomyelinase deficiency (Niemann–Pick disease type AB)ШмаринВ. В.ShmarinV. V.

115522, г. Москва, ул. Москворечье, д. 1

119048, г. Москва, ул. Трубецкая, д. 8/2

1, Moskvorechie st., Moscow, 115478

8/2, Trubetskaya st., Moscow, 119048

ВасиленкоА. А.VasilenkoA. A.

119048, г. Москва, ул. Трубецкая, д. 8/2

1, Moskvorechie st., Moscow, 115478

ЗарубинаВ. В.ZarubinaV. V.

119049, г. Москва, 4-й Добрынинский переулок, д. 1/9

1/9, 4th Dobryninsky Lane, Moscow, 119049

БочароваТ. И.BocharovaT. I.

125373, г. Москва, ул. Героев Панфиловцев, д. 28

28, Geroev Panfilovtsev st., Moscow, 125373

ЗахароваЕ. Ю.ZakharovaE. Yu.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115478

labnbo@med-gen.ruФГБНУ Медико-генетический научный центр имени академика Н.П. Бочкова; ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова МЗ РФ (Сеченовский Университет)РоссияResearch Centre for Medical Genetics; I.M. Sechenov First Moscow State Medical University (Sechenov University)Russian FederationФГБНУ Медико-генетический научный центр имени академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian FederationГБУЗ ДЗМ Морозовская детская городская клиническая больница Департамента здравоохранения г. МосквыРоссияMorozovskaya Children’s City Clinical HospitalRussian FederationГБУЗ ДЗМ Детская городская клиническая больница имени З.А. Башляевой Департамента здравоохранения города МосквыРоссияChildren’s City Clinical Hospital named after Z.A. BashlyaevaRussian Federation202511032025241312Copyright © Шмарин В.В., Василенко А.А., Зарубина В.В., Бочарова Т.И., Захарова Е.Ю., 20252025Шмарин В.В., Василенко А.А., Зарубина В.В., Бочарова Т.И., Захарова Е.Ю.Shmarin V.V., Vasilenko A.A., Zarubina V.V., Bocharova T.I., Zakharova E.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2599

Болезнь Ниманна-Пика (БНП) тип AB – лизосомная болезнь накопления, вызываемая дефицитом фермента кислой сфингомиелиназы (ASM, acid sphingomyelinase). Накопление субстрата блокированной реакции сфингомиелина вызывает повреждение различных систем и органов, таких, как печень и центральная нервная система. Выделяют три основных формы болезни: тип A, тип B и промежуточный тип A/B. Тип A характеризуется быстропрогрессирующим течением и вовлечением нервной системы, тогда как тип B имеет более мягкое течение с преимущественным поражением висцеральных органов – печени, селезенки и легких. Промежуточный тип А/В характеризуется минимальными неврологическими нарушениям в сочетании с висцеральными проявлениями. Золотой стандарт лабораторной диагностики БНП типа AB – определение активности фермента кислой сфингомиелиниазы. Дополнительным тестом является измерение концентрации лизосфинголипидов в крови, а завершающим этапом – ДНК-диагностика. Эффективным методом лечения висцеральных проявлений БНП типа АВ является ферментная заместительная терапия. Также применяют трансплантацию гемопоэтических стволовых клеток, симптоматическую терапию, и разрабатываются подходы к генной терапии и лечению с применением молекулярных шаперонов. В обзоре приведены данные последних лет по патогенезу и диагностике, а также приводится обзор терапевтических подходов к БНП типа AB, в особенности с использованием генетических технологий.

Niemann-Pick disease type A/B is lysosomal storage disease caused by acid sphingomyelinase (ASM) deficiency. The accumulation of sphingomyelin in cells causes damage to various organs, such as the liver and central nervous system. Symptoms of this disease include hepatosplenomegaly, neurological deficiency, and lung disease. There are three main forms of the disease: type A, type B, and intermediate type A/B. Type A is characterized by severe neural degeneration and prominent neurological deficit, while type B is milder with minimal neurological manifestations and signs of lipid accumulation. The intermediate type combines features of both types of Niemann-Pick disease. The diagnosis of Niemann-Pick disease types A/B is made using laboratory tests and results, including ASM activity assessment and genetic mutations in the SMPD1 gene. The gold standard is the enzyme activity assay on dry blood spots. Treatment mainly consists of enzyme replacement therapy (ERT), which improves the condition of the patient, although its effectiveness in neurological symptoms is limited. Alternative methods such as bone marrow transplantation, gene therapy and molecular chaperone therapy are currently being investigated. Despite the advances in the understanding of the pathogenesis and therapy of Niemann-Pick disease types A/B, further investigations are needed to advance early diagnostic methods and develop new therapeutic approaches, especially in the field of gene technology.

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