vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v24i1.2849vsp-3684Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCLINICAL OBSERVATIONSТрудности диагностики и лечения болезни Ниманна – Пика, тип В: клинический случайDiagnosis and Treatment Challenges of Niemann – Pick Disease, Type B: Clinical Casehttps://orcid.org/0009-0004-0150-3264ГолыгинаД. В.GolyginaDiana V.

Чита

Chita

https://orcid.org/0009-0002-0331-9300БегзиА. К-Д.BegzyAikhee K.-D.

Чита

Chita

https://orcid.org/0009-0000-5358-7026ДееваВ. А.DeevaViktoriya A.

Чита

Chita

https://orcid.org/0000-0002-4051-2081БоровикН. Н.BorovikNatalya N.

Чита

Chita

https://orcid.org/0000-0002-2032-7612ЩербакВ. А.ShcherbakVladimir A.

Щербак Владимир Александрович, доктор медицинских наук, профессор, заведующий кафедрой педиатрии факультета дополнительного профессионального образования

672000, Чита, ул. Горького, д. 39а,

тел.: +7 (3022) 35-43-24

Chita

shcherbak2001@mail.ruЧитинская государственная медицинская академияРоссияChita State Medical AcademyRussian FederationКраевая детская клиническая больницаРоссияRegional Children’s Clinical HospitalRussian Federation2025250220252413744Copyright © Голыгина Д.В., Бегзи А.К., Деева В.А., Боровик Н.Н., Щербак В.А., 20252025Голыгина Д.В., Бегзи А.К., Деева В.А., Боровик Н.Н., Щербак В.А.Golygina D.V., Begzy A.K., Deeva V.A., Borovik N.N., Shcherbak V.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/3684Обоснование

Обоснование. Болезнь Ниманна – Пика (БНП) — редкое аутосомно-рецессивное заболевание, вызванное дефицитом фермента кислой сфингомиелиназы и характеризующееся нарушением транспорта липидов и накоплением в клетках холестерина и гликoсфинголипидов. В 2022 г. для ферментозаместительной терапии болезни зарегистрирован препарат олипудаза альфа. Опубликовано описание всего двух исследований и одного наблюдения результатов применения этого препарата у детей. Эффективность и безопасность олипудазы альфа в российских исследованиях не изучали.

Описание клинического случая. У девочки в возрасте 1 года 5 мес впервые отмечены недостаточная прибавка массы тела и диспепсический синдром. В последующем ребенка наблюдали с различными гастроэнтерологическими диагнозами в течение 1,5 лет. В возрасте 3 лет 4 мес установлен диагноз БНП, тип B, подтвержденный обнаружением снижения активности кислой сфингомиелиназы до 0,11 ммoль/л/ч и изменения нуклеотидной последовательности в гене SМРD1. С 3 лет 10 мес ребенок получает препарат олипудаза альфа в нарастающей дозировке (от 0,03 мг/кг до терапевтической — 3 мг/кг массы тела, всего 11 введений) внутривенно, капельно, 1 раз в 2 нед. В течение 24 нед терапии отмечены остановка клинического прогрессирования заболевания (но с сохранением гепатоспленомегалии), положительная динамика лабораторных показателей активности болезни (но с сохранением высокой (66 Ед/л) активности аспартатаминотрансферазы), увеличение массы тела (однако физическое развитие остается ниже среднего, от –1 до –2 SD).

Заключение

Заключение. Сочетание гепатоспленомегалии, увеличения активности трансаминаз и концентрации холестерина, симптомов поражения ЖКТ и недостаточной прибавки массы тела должно насторожить врачей в отношении наличия у ребенка орфанного заболевания. Своевременная диагностика БНП необходима для раннего начала ферментозаместительной терапии, доступной в настоящее время. Нами показано, что с помощью олипудазы альфа удается добиться поддержания жизнедеятельности ребенка, положительной клинической и лабораторной динамики болезни, медленного восстановления физического развития ребенка.

Background

Background. Niemann – Pick disease (NPD) is a rare autosomal recessive disease caused by acid sphingomyelinase deficiency and characterized by impaired intracellular lipids’ transport leading to accumulation of cholesterol and glycosphingolipids in the cells. Olipudase alfa was registered as the drug for enzyme replacement therapy in 2022. There are only two studies and one observation published on the results of its implementation in children. Olipudase alfa efficacy and safety have not been studied in Russian studies.

Clinical case description. Girl, 1 year 5 months old, was diagnosed with insufficient weight gain and dyspeptic syndrome. Subsequently the child was followed up with various gastroenterological diagnoses for 1.5 years. Diagnosis of NPD type B was established at the age of 3 years 4 months, it was confirmed by revealing acid sphingomyelinase activity decrease to 0.11 mmol/l/h and nucleotide variant in the SMPD1 gene. Therapy with olipudase alfa was initiated at the age of 3 years 10 months with increasing dosage (from 0.03 mg/kg to therapeutic — 3 mg/kg of body weight, 11 injections in total), intravenously, drop infusion, once in 2 weeks. Clinical progression of the disease has stopped (with persistent hepatosplenomegaly), positive changes in laboratory parameters of the disease activity were revealed (with persistence of high (66 U/L) aspartate aminotransferase activity), and increasing of body weight (however, physical development remains below average, –1 to –2 SD) was noted within 24 weeks of therapy.

Conclusion

Conclusion. The combination of hepatosplenomegaly, increased transaminase activity and cholesterol levels, gastroenterological symptoms, and insufficient body weight gain should rise doctors’ awareness of orphan disease in a child. Timely diagnosis of NPD is crucial for early enzyme replacement therapy initiation (that is currently available). We have shown that olipudase alfa can help us to maintain child’s vital activity, to achieve positive clinical and laboratory dynamics, and to reach slow recovery of the child’s physical development.

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