nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное обществоnid-806Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИCASE REPORTSРедкая форма митохондриопатии, обусловленной дефицитом коэнзима Q: стероид-резистентный нефротический синдром вследствие мутации СoQ6Rare form of mitochondriopathy with the deficiency of coenzyme Q: Steroid-resistant nephrotic syndrome with CoQ6 mutationВашуринаТ. В.VashurinaT. V.tvv-09@mail.ruЗробокО. И.ZrobokO. I.noemail@neicon.ruМаргиеваТ. В.MargievaT. V.noemail@neicon.ruМатвееваМ. В.MatveevaM. V.noemail@neicon.ruАндреенкоН. В.AndreenkoN. V.noemail@neicon.ruЛеоноваЛ. В.LeonovaL. V.noemail@neicon.ruПовилайтитеП. Е.PovilaititeP. E.noemail@neicon.ruЦыгинА. Н.TsyginA. N.noemail@neicon.ruНИИ педиатрии ФГБУ «НЦЗД» РАМНRussian FederationГУЗ Патологоанатомическое бюро Ростовской областиRussian Federation201217062025142133136Copyright © Вашурина Т.В., Зробок О.И., Маргиева Т.В., Матвеева М.В., Андреенко Н.В., Леонова Л.В., Повилайтите П.Е., Цыгин А.Н., 20252025Вашурина Т.В., Зробок О.И., Маргиева Т.В., Матвеева М.В., Андреенко Н.В., Леонова Л.В., Повилайтите П.Е., Цыгин А.Н.Vashurina T.V., Zrobok O.I., Margieva T.V., Matveeva M.V., Andreenko N.V., Leonova L.V., Povilaitite P.E., 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/806

Представлено редкое наблюдение стероид-резистентного нефротического синдрома, вторичного по отношению к дефициту коэнзима Q10. Особенностью течения болезни явилось сочетание нефротического синдрома с ранним дебютом нейросенсорной тугоухости, а также его чувствительность к циклоспорину А. Рапространенная пролиферация дисморфных митохондрий в гломерулярных клетках, выявленная ультраструктурными исследованиями, оказалась решающей находкой для идентификации митохондриальной цитопатии и начала последующего генетического исследования, позволившего установить точный диагноз.

We present an observation of early-onset steroid-resistant nephrotic syndrome with sensorineural deafness as a consequence of CoQ10 deficiency, with ultrastructural renal lesion characterized by widespread proliferation of abnormal mitochondria in glomerular cells.

CoQ2 нефропатияCoQ6 нефропатиястероид-резистентный нефротический синдромгенетикадетиCoQ2 nephropathyCoQ6 nephropathysteroid-resistant nephrotic syndromegeneticschildrenReferencesDiomedi-Camassei F., Di Giandomenico S., Santorelli F.M. et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement // J. Am. Soc. Nephrol. 2007. Vol. 18. P. 2773–2780.Diomedi-Camassei F., Di Giandomenico S., Santorelli F.M. et al. COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement // J. Am. Soc. Nephrol. 2007. Vol. 18. P. 2773–2780.Duncan A.J., Bitner-Glindzicz M., Meunier B. et al. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease // Am. J. Hum. Genet. 2009. Vol. 84. P. 558–566.Duncan A.J., Bitner-Glindzicz M., Meunier B. et al. A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease // Am. J. Hum. Genet. 2009. Vol. 84. P. 558–566.Heeringa S.F., Chernin G., Chaki M. et al. COQ6 mutations in human patients produce nephritic syndrome with sensorineural deafness // J. Clin. Invest. 2011. Vol. 121. № 5. P. 2013–2024.Heeringa S.F., Chernin G., Chaki M. et al. COQ6 mutations in human patients produce nephritic syndrome with sensorineural deafness // J. Clin. Invest. 2011. Vol. 121. № 5. P. 2013–2024.Hirano M., Konishi K., Arata N. et al. Renal complication in a patient with A-to-G mutation of mitochondrial DNA at the 3243 position of leucine tRNA // Intern. Med. 2002. Vol. 41. P. 113–118.Hirano M., Konishi K., Arata N. et al. Renal complication in a patient with A-to-G mutation of mitochondrial DNA at the 3243 position of leucine tRNA // Intern. Med. 2002. Vol. 41. P. 113–118.Hott O., Inoue C.N., Miyabayashi S. et al. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu (UUR) gene mutation // Kidney Int. 2001. Vol. 59. P. 1236–1243.Hott O., Inoue C.N., Miyabayashi S. et al. Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu (UUR) gene mutation // Kidney Int. 2001. Vol. 59. P. 1236–1243.Kim I., Rodriguez-Enriquez S., Lemasters J.J. Selective degradation of mitochondria by mitophagy // Arch. Biochem. Biophys. 2007. Vol. 462. № 2. P. 245–253.Kim I., Rodriguez-Enriquez S., Lemasters J.J. Selective degradation of mitochondria by mitophagy // Arch. Biochem. Biophys. 2007. Vol. 462. № 2. P. 245–253.Lagier-Tourenne C., Tazir M., Lopez L.C. et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency // Am. J. Hum. Genet. 2008. Vol. 82. P. 661–672.Lagier-Tourenne C., Tazir M., Lopez L.C. et al. ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency // Am. J. Hum. Genet. 2008. Vol. 82. P. 661–672.Lopez L.C., Schuelke M., Quinzii C.M. et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations // Am. J. Hum. Genet. 2006. Vol. 79. P. 1125–1129.Lopez L.C., Schuelke M., Quinzii C.M. et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations // Am. J. Hum. Genet. 2006. Vol. 79. P. 1125–1129.Mollet J., Giurgea I., Schlemmer D. et al. Pre-nyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders // J. Clin. Invest. 2007. Vol. 117. P. 765–772.Mollet J., Giurgea I., Schlemmer D. et al. Pre-nyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders // J. Clin. Invest. 2007. Vol. 117. P. 765–772.Niaudet P. Mitochondrial disorders and the kidney// Arch. Intern. Med. 1998. Vol. 78. P. 387–390.Niaudet P. Mitochondrial disorders and the kidney// Arch. Intern. Med. 1998. Vol. 78. P. 387–390.Quinzii C., Naini A., Salviati L. et al. A Mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency // Am. J. Hum. Genet. 2006. Vol. 78. P. 345–349.Quinzii C., Naini A., Salviati L. et al. A Mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency // Am. J. Hum. Genet. 2006. Vol. 78. P. 345–349.Rotig A., Appelkvist E.L., Geromel V. et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency // Lancet. 2000. Vol. 356. P. 391–395.Rotig A., Appelkvist E.L., Geromel V. et al. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency // Lancet. 2000. Vol. 356. P. 391–395.Rotig A. Renal disease and mitochondrial genetics //. J. Nephrol. 2003. Vol. 16. P. 286–292.Rotig A. Renal disease and mitochondrial genetics //. J. Nephrol. 2003. Vol. 16. P. 286–292.Tran U.C., Clarke C.F. Endogenous synthesis of coenzyme Q in eukaryotes // Mitochondrion. 2007. Vol. 7. S. 62–71.Tran U.C., Clarke C.F. Endogenous synthesis of coenzyme Q in eukaryotes // Mitochondrion. 2007. Vol. 7. S. 62–71.Waldmeier P.C, Zimmermann K., Qian T. et al. Cyclophilin D as a drug target // Curr. Med. Chem. 2003. Vol. 10. № 16. P. 1485–1506.Waldmeier P.C, Zimmermann K., Qian T. et al. Cyclophilin D as a drug target // Curr. Med. Chem. 2003. Vol. 10. № 16. P. 1485–1506.

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