vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v22i6.2702vsp-3357Research ArticleВ ПОМОЩЬ ВРАЧУA DOCTOR’S AIDСемь вопросов о болезни Ниманна – ПикаNiemann-Pick Disease: Seven Questions about ithttps://orcid.org/0000-0001-8320-2027ВашакмадзеН. Д.VashakmadzeNato D.

Вашакмадзе Нато Джумберовна - доктор медицинских наук, профессор кафедры факультетской педиатрии педиатрического факультета ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России; руководитель отдела орфанных болезней и профилактики инвалидизирующих заболеваний НИИ педиатрии и охраны здоровья детей НКЦ №2 ФГБНУ «РНЦХ им. акад. Б.В. Петровского» Минобрнауки России.

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nato-nato@yandex.ruhttps://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNataliya V.

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НИИ 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; 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 Federation202312012024226572576Copyright © Вашакмадзе Н.Д., Журкова Н.В., 20232023Вашакмадзе Н.Д., Журкова Н.В.Vashakmadze N.D., Zhurkova N.V.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3357

Дефицит кислой сфингомиелиназы — редкое наследственное заболевание, возникающее в результате недостаточности фермента кислой сфингомиелиназы вследствие мутаций в гене SMPD1. Снижение активности фермента приводит к накоплению в лизосомах сфингомиелина. Для заболевания характерна широкая вариабельность клинических проявлений — от инфантильной нейровисцеральной формы (болезнь Ниманна – Пика типа А), сопровождающейся тяжелой быстропрогрессирующей нейродегенерацией, до хронической висцеральной формы (болезнь Ниманна – Пика типа В), протекающей практически без вовлечения центральной нервной системы. Отдельно выделяется также промежуточный фенотип — хроническая нейровисцеральная форма (болезнь Ниманна – Пика типа А/В), сочетающая в себе проявления обеих этих форм — как висцеральные, так и неврологические. Течение заболевания, как правило, носит прогрессирующий мультисистемный характер из-за накопления сфингомиелина в клетках моноцитарно-макрофагальной системы, а также в клетках других типов, например гепатоцитах.

Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes. This disease is characterized by wide diversity of clinical manifestations: from infantile neurovisceral form (Niemann-Pick disease type A) with severe rapidly progressive neurodegeneration to chronic visceral form (Niemann-Pick disease type B) with almost no central nervous system involvement. There is also intermediate phenotype: chronic neurovisceral form (Niemann-Pick disease type A/B) that includes manifestations two other forms, both visceral and neurological. The disease course is most commonly progressive and multi-system due to sphingomyelin accumulation in cells of the monocyte-macrophage system, as well as in other cells such as hepatocytes.

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