rospedjРоссийский педиатрический журналRussian Pediatric Journal2687-0843Издательство «ПедиатрЪ»10.15690/rpj.v5i2.2755rospedj-755Research ArticleОРИГИНАЛЬНЫЕ СТАТЬИORIGINAL INVESTIGATIONSСиндром истощения митохондриальной ДНК, тип 3 (гепатоцеребральный тип): клинический случайMitochondrial DNA depletion syndrome, type 3 (hepatocerebral type): a case reporthttps://orcid.org/0000-0002-0399-9484КаляковаН. В.KalyakovaNatalya V.

Калякова Наталья Владимировна, врач анестезиолог-реаниматолог, неонатолог отделения реанимации и интенсивной терапии новорожденных 

620066, Екатеринбург, ул. Комвузовская, 3, тел.: +7 (343) 374-51-27, +7 (961) 765-52-98

Natalya V. Kalyakova, MD

3, Komvuzovskaya Str., Yekaterinburg, 620066

kalyakova95@mail.ruhttps://orcid.org/0000-0003-3445-2956ШестакЕ. В.ShestakEvgenii V.

Шестак Евгений Вячеславович, к.м.н.

Екатеринбург

Evgenii V. Shestak, MD, PhD

Yekaterinburg

shestakev@yandex.ruhttps://orcid.org/0009-0003-3576-2427КрохалеваЯ. М.KrohalevaYaroslava M.

Крохалева Ярослава Михайловна

Екатеринбург

Yaroslava M. Krohaleva, MD

Yekaterinburg

Yakobeleva@ya.ruЕкатеринбургский клинический перинатальный центрРоссияYekaterinburg Clinical Perinatal CenterRussian FederationЕкатеринбургский клинический перинатальный центр; Уральский государственный медицинский университетРоссияYekaterinburg Clinical Perinatal Center; Ural State Medical UniversityRussian FederationСвердловское областное патологоанатомическое бюроРоссияSverdlovsk Regional Pathology OfficeRussian Federation2024110720245286–93Copyright © Калякова Н.В., Шестак Е.В., Крохалева Я.М., 20242024Калякова Н.В., Шестак Е.В., Крохалева Я.М.Kalyakova N.V., Shestak E.V., Krohaleva Y.M.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.rospedj.ru/jour/article/view/755Обоснование

Обоснование. Синдром истощения митохондриальной ДНК (мтДНК), гепатоцеребральный тип — это наследственное заболевание, которое наследуется по аутосомно-рецессивному типу и связано с нарушением в работе митохондрий. Прогрессирующее нарушение жизненно важных функций, метаболические и коагуляционные нарушения, характерные для этого заболевания, чаще всего приводят к летальному исходу. На данный момент патогенетического лечения не существует.

Описание клинического случая. У ребенка, рожденного в 39 нед гестации от близкородственного брака с первых суток жизни наблюдались метаболический ацидоз, гипогликемия, геморрагический синдром с острой печеночной недостаточностью, которые впоследствии привели к летальному исходу в возрасте 17 сут жизни. Молекулярно-генетическое обследование методом массового параллельного панельного секвенирования выявило мутацию в гене DGUOK. Проведен анализ случаев синдрома истощения мтДНК, опубликованных в англоязычной медицинской литературе. Отмечены общность симптомов и сроки их первого проявления, морфологические и лабораторно-инструментальные изменения.

Заключение

Заключение. Описаны основные клинические и лабораторные признаки, на основании которых можно предположить наличие синдрома истощения мтДНК. Проведенное молекулярно-генетическое обследование позволяет с высокой вероятностью установить диагноз данного заболевания у ребенка и даст родителям возможность дальнейшего более тщательного обследования, пренатального консультирования и планирования следующей беременности.

Backdround

Backdround. Mitochondrial DNA depletion syndrome (MDDS) hepatocerebral type is an inherited disease that is inherited in an autosomal recessive type and is associated with a malfunction of the mitochondria. Progressive impairment of vital functions, metabolic and coagulation disorders characteristic of this disease, most often lead to death. At the moment, there is no pathogenetic treatment.

Case report

Case report. A child born at 39 weeks of gestation from a closely related marriage had metabolic acidosis, hypoglycemia, hemorrhagic syndrome with acute liver failure from the first day of life, which subsequently led to death at the age of 17 days of life.

Conclusion

Conclusion. The main clinical and laboratory signs are described, on the basis of which the presence of mtDNA depletion syndrome can be assumed. A molecular genetic examination has been carried out, which makes it possible to diagnose this disease in a child with a high probability and will give parents the opportunity for further more thorough examination, prenatal counseling and planning of the next pregnancy .

синдром истощения митохондриальной ДНКDGUOKноворожденныелактатацидозmitochondrial DNA depletion syndromeDGUOKnewbornslactacidemiaОтсутствует. Авторы выражают признательность О.Т. Кабдрахмановой, Р.Ф. Мухаметшину за предоставление дополнительной информации о пациенте.Not specified.ReferencesSpinazzola A. Mitochondrial DNA mutations and depletion in pediatric medicine. Semin Fetal Neonatal Med. 2011;16(4):190–196. doi: https://doi.org/10.1016/j.siny.2011.04.011Spinazzola A. Mitochondrial DNA mutations and depletion in pediatric medicine. Semin Fetal Neonatal Med. 2011;16(4):190–196. doi: https://doi.org/10.1016/j.siny.2011.04.011Schaefer AM, McFarland R, Blakely EL, et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol. 2008;63(1):35–39. doi: https://doi.org/10.1002/ana.21217Schaefer AM, McFarland R, Blakely EL, et al. Prevalence of mitochondrial DNA disease in adults. 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The authors declare that there are no conflicts of interest present.