nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное общество10.28996/2618-9801-2025-3-307-317nid-3877Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL ARTICLESКлиническая характеристика российских детей с первичной гипероксалурией. Результаты пилотного исследования терапии люмазираном первичной гипероксалурии 1 типаClinical characteristics of Russian children with primary hyperoxaluria. Results of a pilot study of lumasiran therapy of primary hyperoxaluria type 1https://orcid.org/0000-0003-1615-2044МиловановаА. М.MilovanovaA. M.

Милованова Анастасия Михайловна – канд. мед. наук, врач-нефролог нефрологического отделения ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2/1

Anastasiia M. Milovanova.

119991, Lomonosovsky pr. 2/1

milovanova.am@nczd.ruhttps://orcid.org/0000-0002-3308-3039ВашуринаТ. В.VashurinaT. V.

Вашурина Татьяна Валериевна – канд. мед. наук., врач-нефролог нефрологического отделения ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2/1

Tatiana V. Vashurina.

119991, Lomonosovsky pr. 2/1

tvv-09@mail.ruhttps://orcid.org/0000-0001-5010-0956ЗробокО. И.ZrobokO. I.

Зробок Ольга Исофатовна – канд. мед. наук, врач-нефролог нефрологического отделения ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2/1

Olga I. Zrobok.

119991, Lomonosovsky pr. 2/1

zrobochek@mail.ruhttps://orcid.org/0000-0002-5739-574XНиколаеваР. А.NikolaevaR. A.

Николаева Расита Александровна – врач-нефролог консультативного отделения ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2/1

Rasita A. Nikolaeva.

119991, Lomonosovsky pr. 2/1

nikolaevarasita@mail.ruhttps://orcid.org/0000-0002-0336-5449ЦыгинаЕ. Н.TsyginaE. N.

Цыгина Елена Николаевна – д-р мед. наук, зав. Рентгеновского отделения с ангиографическим кабинетом ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2/1

Elena N. Tsygina.

119991, Lomonosovsky pr. 2/1

tsygina@nczd.ruhttps://orcid.org/0000-0001-6648-2063ПушковА. А.PushkovA. A.

Пушков Александр Алексеевич – канд. биол. наук, ст.н.с. лаборатории медицинской геномики ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2/1

Alexandr A. Pushkov.

119991, Lomonosovsky pr. 2/1

pushkovgenetika@gmail.comhttps://orcid.org/0000-0003-4885-4171СавостьяновК. В.SavostyanovK. V.

Савостьянов Кирилл Викторович – д-р биол. наук, начальник медико-генетического центра, зав.лабораторией медицинской геномики ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2/1

Kirill V. Savostyanov.

119991, Lomonosovsky pr. 2/1

7443333@gmail.comhttps://orcid.org/0000-0002-3537-6601МонаховА. Р.MonakhovA. R.

Монахов Артем Рашидович – канд. мед. наук, зав. Хирургическим отделением №2 ФГАУ «НМИЦ трансплантации и искусственных органов им. ак. В.И. Шумакова» Минздрава РФ.

123182, Москва, Щукинская улица, д. 1

Artem R. Monakhov.

123182, Schukinskaya st. 1

a.r.monakhov@gmail.comhttps://orcid.org/0000-0003-3131-331XАнаньинП. В.AnaninP. V.

Ананьин Петр Владимирович – канд. мед. наук, врач-нефролог нефрологического отделения ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2/1

Petr V. Ananin.

119991, Lomonosovsky pr. 2/1

ananin.pv@gmail.comhttps://orcid.org/0000-0001-6301-9313ЦыгинА. Н.TsyginA. N.

Цыгин Алексей Николаевич – д-р мед. наук, проф., зав. Нефрологическим отделением ФГАУ «НМИЦ здоровья детей» Минздрава РФ.

119991, Москва, Ломоносовский проспект, 2/1

Alexey N. Tsygin.

119991, Lomonosovsky pr. 2/1

a_tsygin@mail.ruФГАУ «Национальный медицинский исследовательский центр здоровья детей» Министерства здравоохранения Российской ФедерацииРоссияNational Medical Research Center for Children’s Health, Ministry of Health of Russian FederationRussian FederationФГАУ «Национальный медицинский исследовательский центр трансплантации и искусственных органов им. ак. В.И. Шумакова» Министерства здравоохранения Российской ФедерацииРоссияV.I. Shumakov National Medical Research Center of Transplantology and Artificial Organs, Ministry of Health of Russian FederationRussian Federation202504102025273307317Copyright © Милованова А.М., Вашурина Т.В., Зробок О.И., Николаева Р.А., Цыгина Е.Н., Пушков А.А., Савостьянов К.В., Монахов А.Р., Ананьин П.В., Цыгин А.Н., 20252025Милованова А.М., Вашурина Т.В., Зробок О.И., Николаева Р.А., Цыгина Е.Н., Пушков А.А., Савостьянов К.В., Монахов А.Р., Ананьин П.В., Цыгин А.Н.Milovanova A.M., Vashurina T.V., Zrobok O.I., Nikolaeva R.A., Tsygina E.N., Pushkov A.A., Savostyanov K.V., Monakhov A.R., Ananin P.V., Tsygin A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephro.ru/jour/article/view/3877

Первичная гипероксалурия – тяжелая аутосомно-рецессивная болезнь, приводящая к хронической болезни почек, требующей заместительной почечной терапии в детском возрасте. Некоторые пациенты с первичной гипероксалурией 1 типа могут быть чувствительны к терапии пиридоксином, в то время как пациенты с первичной гипероксалурией 2 и 3 типа получают только малоэффективную терапию цитратами. В последние годы для лечения первичной гипероксалурии 1 типа появился таргетный препарат, действие которого основано на снижении выработки глиоксилата и образовании оксалата. На настоящий момент нет опубликованных данных об эффективности люмазирана у российских пациентов.

Материалы и методы

Материалы и методы: в нефрологическом отделении ФГАУ «НМИЦ здоровья детей» Минздрава России с 2014 года наблюдались 14 детей с первичной гипероксалурией, из них 12 – с первичной гипероксалурией 1 типа, 2 с первичной гипероксалурией 3 типа. Из 12 детей с первичной гипероксалурией 1 типа пятеро получали патогенетическую терапию люмазираном. Длительность терапии на момент написания статьи составила от 9 месяцев до 3 лет, средняя длительность 26 (SD 13) месяцев.

Результаты

Результаты: на фоне 12 месяцев терапии ухудшения в отношении нефрокальциноза и стадии хронической болезни почек не отмечено ни у одного пациента. У четверых пациентов зафиксировано снижение оксалурии на фоне лечения в течение 1 года: с 13 норм до 1,23 нормы (на 90%), с 4,57 до 1 нормы (на 88%), с 3,3 до 1 нормы (на 89%) и с 2,7 до 1 нормы (на 74%). Один ребенок получает препарат менее 1 года.

Выводы

Выводы: раннее начало терапии первичной гипероксалурии (особенно первичной гипероксалурии 1 типа в связи с имеющимися методами патогенетической терапии) существенно влияет не только на почечную, но и на общую выживаемость.

Primary hyperoxaluria is a severe autosomal recessive disorder that leads to chronic kidney disease and often necessitates renal replacement therapy in childhood. Some patients with primary hyperoxaluria type 1 respond to pyridoxine therapy, whereas patients with types 2 and 3 receive only citrate therapy. In recent years, a targeted drug – lumasiran – has become available for treating 1 type primary hyperoxaluria. Its mechanism is based on reducing glioxylate production and, consequently, oxalate formation. To date, no published data exist on the efficacy of lumasiran in Russian patients.

Materials

Materials: Since 2014, 14 children with primary hyperoxaluria have been followed in the Nephrology Department of the National Research Center for Children’s Health: 12 with 1 type and 2 with type 3. Among the 12 children type 1 patients, 5 received pathogenetic therapy with lumasiran. The duration of treatment ranged from 9 months to 3 years, with a mean 26 months (SD 13 months).

Results

Results: After 12 months of therapy, no patients showed worsening of nephrocalcinosis or decline in kidney function. Four patients achieved marked reduction in urinary oxalate excretion (90%, 88%, 89% and 74%). One child had been on treatment for less than one year.

Conclusions

Conclusions: Early treatment initiation of treatment for primary hyperoxaluria – particularly type 1 – significantly improve not only renal but also overall survival.

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