References

nid

Нефрология и диализ

Nephrology and Dialysis

1680-44222618-9801

Российское диализное общество

nid-800

Research Article

ОБЗОРЫ И ЛЕКЦИИ

REVIEWS AND LECTURES

Наследственные митохондриальные цитопатии: коэнзим Q нефропатии (Обзор литературы)

Inherited Mitochondriopathy: CoQ nephropathy Review

Вашурина

Т. В.

Vashurina

T. V.

tvv-09@mail.ru

Зробок

О. И.

Zrobok

O. I.

noemail@neicon.ru

Маргиева

Т. В.

Margieva

T. V.

noemail@neicon.ru

Цыгин

А. Н.

Tsygin

A. N.

noemail@neicon.ru

НИИ педиатрии ФБГУ «НЦЗД» РАМН, МоскваРоссияResearch Institute of pediatry, Research Center of Children Health, Russian Academy of Medical Sciences, MoscowRussian Federation

2012

17062025

14295101

2025

Вашурина Т.В., Зробок О.И., Маргиева Т.В., Цыгин А.Н.

Vashurina T.V., Zrobok O.I., Margieva T.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/800

В обзоре представлены современные данные о крайне редких СoQ10-дефицитных гломерулопатиях, как изолированных, так и в рамках мультисистемных инфантильных форм. Установление вторичности стероид-резистентного нефротического синдрома по отношению к дефициту коэнзима Q не представляется возможным без установления генетических дефектов его биосинтеза. Тем не менее, объединяющим ультраструктурным признаком гломерулярного повреждения, вторичного к наследственной митохондриальной дисфункции, является обнаружение распространенной пролиферации дисморфных митохондрий в подоцитах, эндотелиальных и мезангиальных клетках. Ранняя постановка диагноза имеет решающее значение, вследствие возможной чувствительности СoQ-дефицитных форм стероид-резистентного нефротического синдрома к введению коэнзима Q10.

A rare form of genetic mitochondrial nephropathy due to the deficiency of Coenzyme Q10 that is often accompanied with multisystem disorders is reviewed. The diagnosis is based upon molecular genetic studies and the presence of multiple dysmorphic mitochondria in podocytes, mesangial and endothelial cells revealed by electron microscopy. Early diagnosis is mandatory since some forms of nephrotic syndrome may respond to the treatment with Coenzyme Q10.

CoQ2-нефропатияCoQ6-нефропатиястероид-резистентный нефротический синдромCoQ2 nephropathyCoQ6 nephropathysteroid-resistant nephrotic syndrome

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