nidНефрология и диализNephrology and Dialysis1680-44222618-9801Российское диализное обществоnid-547Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИCASE REPORTSПоражение почек при туберозном склерозе: хромофобный рак, множественные кисты почки и почечная недостаточность у молодого пациентаKidney damage due to tuberous sclerosis complex: chromophobe renal cell carcinoma, multiple renal cysts and renal failure in young patientПрокопенкоЕ. И.ProkopenkoE. I.renalnephron@gmail.comБазаевВ. В.BasaevV. V.noemail@neicon.ruСтепановВ. А.StepanovV. A.noemail@neicon.ruЩербаковаЕ. О.ShcherbakovaE. O.noemail@neicon.ruВиноградовА. В.VinogradovA. V.noemail@neicon.ruПавловаЮ. В.PavlovaJ. V.noemail@neicon.ruКазанцеваИ. А.KazantsevaI. A.noemail@neicon.ruПавловаТ. В.PavlovaT. V.noemail@neicon.ruГБУЗ МО Московский областной научно-исследовательский клинический институт им. М.Ф. Владимирского, МоскваРоссияM.F. Vladimirsky Moscow Regional Research Clinical InstituteRussian Federation201413092024162288296Copyright © Прокопенко Е.И., Базаев В.В., Степанов В.А., Щербакова Е.О., Виноградов А.В., Павлова Ю.В., Казанцева И.А., Павлова Т.В., 20242024Прокопенко Е.И., Базаев В.В., Степанов В.А., Щербакова Е.О., Виноградов А.В., Павлова Ю.В., Казанцева И.А., Павлова Т.В.Prokopenko E.I., Basaev V.V., Stepanov V.A., Shcherbakova E.O., Vinogradov A.V., Pavlova J.V., Kazantseva I.A., Pavlova T.V.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/547

В статье описан хромофобный рак почки и множественные почечные кисты у пациента молодого возраста с туберозным склерозом при отсутствии характерных для данного заболевания поражений центральной нервной системы и других органов. Обсуждаются ключевые симптомы, варианты поражения почек и перспективы лечения туберозного склероза.

Article describes chromophobe renal cell carcinoma and multiple renal cysts in a young patient with tuberous sclerosis complex in the absence of the typical for this disease central nervous system and other organs lesions. Key symptoms of the disease, variants of renal damage and prospects for treatment are discussed.

туберозный склерозпоражение почекхроническая болезнь почекопухоли почкихромофобный рак почкиtuberous sclerosisrenal damagechronic kidney diseasekidney tumorschromophobe renal cell carcinomaReferencesГорелышев С.К., Сатанин Л.А., Хухлаева Е.А. и др. Опухоли боковых желудочков у больных с туберозным склерозом: диагностика и хирургическое лечение // Нейрохирургия и неврология детского возраста. 2009. №3-4. С. 65-75.Горелышев С.К., Сатанин Л.А., Хухлаева Е.А. и др. Опухоли боковых желудочков у больных с туберозным склерозом: диагностика и хирургическое лечение // Нейрохирургия и неврология детского возраста. 2009. №3-4. С. 65-75.Крапивкин А.И., Дорофеева М.Ю. Нарушения умственного развития и поведения у детей с туберозным склерозом // Рос. вестн. перинатологии и педиатрии. 2011. №4. С. 78-83.Крапивкин А.И., Дорофеева М.Ю. Нарушения умственного развития и поведения у детей с туберозным склерозом // Рос. вестн. перинатологии и педиатрии. 2011. №4. С. 78-83.Куклин И. А., Кениксфест Ю. В., Волкова Н.В. и др. Болезнь Прингла-Бурневилля: диагностика на стыке дисциплин // Современные проблемы дерматовенерологии, иммунологии и врачебной косметологии. 2010. № 4. С. 55-62.Куклин И. А., Кениксфест Ю. В., Волкова Н.В. и др. Болезнь Прингла-Бурневилля: диагностика на стыке дисциплин // Современные проблемы дерматовенерологии, иммунологии и врачебной косметологии. 2010. № 4. С. 55-62.Львов А. Н., Теплюк Н. П., Паничкина Г. С. и др. Болезнь Бурневилля-Прингла // Рос. журн. кожных и венер. болезней. 2001. № 6. С. 12 - 16.Львов А. Н., Теплюк Н. П., Паничкина Г. С. и др. Болезнь Бурневилля-Прингла // Рос. журн. кожных и венер. болезней. 2001. № 6. С. 12 - 16.Матвеев В.Б., Волкова М.И., Гурарий Л.Л. и др. Гигантские ангиомиолипомы почек как проявление болезни Бурневилля-Прингла // Онкоурология. 2011. № 3. С. 132-135.Матвеев В.Б., Волкова М.И., Гурарий Л.Л. и др. Гигантские ангиомиолипомы почек как проявление болезни Бурневилля-Прингла // Онкоурология. 2011. № 3. С. 132-135.Behnes C.L., Schütze G., Engelke C. et al. 13-year-old tuberous sclerosis patient with renal cell carcinoma associated with multiple renal angiomyolipomas developing multifocal micronodular pneumocyte hyperplasia // BMC Clin. Pathol. 2013. Vol. 13. P. 4.Behnes C.L., Schütze G., Engelke C. et al. 13-year-old tuberous sclerosis patient with renal cell carcinoma associated with multiple renal angiomyolipomas developing multifocal micronodular pneumocyte hyperplasia // BMC Clin. Pathol. 2013. Vol. 13. P. 4.Bernstein J., Robbins T.O. Renal involvement in tuberous sclerosis // Ann. N. Y. Acad. Sc. 1991. Vol. 615. P. 36-49.Bernstein J., Robbins T.O. Renal involvement in tuberous sclerosis // Ann. N. Y. Acad. Sc. 1991. Vol. 615. P. 36-49.Bissler J.J., Kingswood J.C., Radzikowska E. et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial // Lancet. 2013. Vol. 381(9869). P. 817-24.Bissler J.J., Kingswood J.C., Radzikowska E. et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial // Lancet. 2013. Vol. 381(9869). P. 817-24.Castagnetti M., Vezzu B., Laverda A. et al. Urological counseling and followup in pediatric tuberous sclerosis complex // J. Urol. 2007. Vol. 178. P. 2155-2159.Castagnetti M., Vezzu B., Laverda A. et al. Urological counseling and followup in pediatric tuberous sclerosis complex // J. Urol. 2007. Vol. 178. P. 2155-2159.Corsenca A., Aebersold F., Moch H. et al. Combined nephrectomy and pre-emptive renal transplantation in a tuberous sclerosis patient with angiomyolipoma, renal carcinoma and life-threatening abdominal haemorrhages // Nephrol. Dial. Transplant. 2007. Vol. 22. P. 3330-3333.Corsenca A., Aebersold F., Moch H. et al. Combined nephrectomy and pre-emptive renal transplantation in a tuberous sclerosis patient with angiomyolipoma, renal carcinoma and life-threatening abdominal haemorrhages // Nephrol. Dial. Transplant. 2007. Vol. 22. P. 3330-3333.Crotty T.B., Farrow G.W., Lieber M.M. Chromophobe cell renal carcinoma; clinicopathological features of 50 cases // J. Urol. 1995. Vol. 154(3). P. 964-967.Crotty T.B., Farrow G.W., Lieber M.M. Chromophobe cell renal carcinoma; clinicopathological features of 50 cases // J. Urol. 1995. Vol. 154(3). P. 964-967.Curatolo P. Tuberous Sclerosis Complex: From Basic Science to Clinic Phenotypes. London. Mac Keith Press. 2003.Curatolo P. Tuberous Sclerosis Complex: From Basic Science to Clinic Phenotypes. London. Mac Keith Press. 2003.Curatolo P, Jóźwiak S, Nabbout R; TSC Consensus Meeting for SEGA and Epilepsy Management. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations // Eur. J. Paediatr. Neurol. 2012. Vol. 16(6). P. 582-586.Curatolo P, Jóźwiak S, Nabbout R; TSC Consensus Meeting for SEGA and Epilepsy Management. Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations // Eur. J. Paediatr. Neurol. 2012. Vol. 16(6). P. 582-586.De Pasquale V., Natali G., Falappa P. et al. Selective arterial embolization of giant renal tuberous sclerosis // Indian J. Pediatr. 2013. Vol. 80(3). P. 263-265.De Pasquale V., Natali G., Falappa P. et al. Selective arterial embolization of giant renal tuberous sclerosis // Indian J. Pediatr. 2013. Vol. 80(3). P. 263-265.Dhakal M., Dhakal O.P., Bhandari D. Polycystic kidney disease and chronic renal failure in tuberous sclerosis // BMJ Case Rep. 2013. pii: bcr2013200711.Dhakal M., Dhakal O.P., Bhandari D. Polycystic kidney disease and chronic renal failure in tuberous sclerosis // BMJ Case Rep. 2013. pii: bcr2013200711.Dixon B. P., Hulbert J.C., Bissler J.J. Tuberous Sclerosis Complex Renal Disease // Nephron Exp. Nephrol. 2011. Vol. 118. P. e15-e20.Dixon B. P., Hulbert J.C., Bissler J.J. Tuberous Sclerosis Complex Renal Disease // Nephron Exp. Nephrol. 2011. Vol. 118. P. e15-e20.European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16 // Cell. 1993. Vol. 75. P. 1305-1315.European Chromosome 16 Tuberous Sclerosis Consortium. Identification and characterization of the tuberous sclerosis gene on chromosome 16 // Cell. 1993. Vol. 75. P. 1305-1315.Franz D.N., Belousova E., Sparagana S. et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial // Lancet. 2013. Vol. 381(9861). P. 125-132.Franz D.N., Belousova E., Sparagana S. et al. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial // Lancet. 2013. Vol. 381(9861). P. 125-132.Haidinger M., Hecking M., Weichhart T. et al. Sirolimus in renal transplant recipients with tuberous sclerosis complex: clinical effectiveness and implications for innate immunity // Transpl. Int. 2010. Vol. 23(8). P. 777-785.Haidinger M., Hecking M., Weichhart T. et al. Sirolimus in renal transplant recipients with tuberous sclerosis complex: clinical effectiveness and implications for innate immunity // Transpl. Int. 2010. Vol. 23(8). P. 777-785.Harabayashi T., Shinohara N., Katano H. Management of renal angiomyolipomas associated with tuberous sclerosis complex // J. Urol. 2004. Vol. 171. P. 102-105.Harabayashi T., Shinohara N., Katano H. Management of renal angiomyolipomas associated with tuberous sclerosis complex // J. Urol. 2004. Vol. 171. P. 102-105.Hidai H., Chiba T., Takagi Y. et al. Bilateral Chromophobe Cell Renal Carcinoma in Tuberous Sclerosis Complex // Int. J. Urol. 1997. Vol. 4. P. 86-89.Hidai H., Chiba T., Takagi Y. et al. Bilateral Chromophobe Cell Renal Carcinoma in Tuberous Sclerosis Complex // Int. J. Urol. 1997. Vol. 4. P. 86-89.Hussain M., Mubarak M., Sultan G. et al. Renal transplant in a tuberous sclerosis patient with bilateral giant renal angiomyolipomas and concurrent renal carcinoma // Saudi J. Kidney Dis. Transpl. 2013. Vol. 24(2). P. 318-321.Hussain M., Mubarak M., Sultan G. et al. Renal transplant in a tuberous sclerosis patient with bilateral giant renal angiomyolipomas and concurrent renal carcinoma // Saudi J. Kidney Dis. Transpl. 2013. Vol. 24(2). P. 318-321.Jones A.C., Shyamsundar M.M., Thomas M.W. et al. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis // Am. J. Hum. Genet. 1999. Vol. 64. P. 1305-1315.Jones A.C., Shyamsundar M.M., Thomas M.W. et al. Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis // Am. J. Hum. Genet. 1999. Vol. 64. P. 1305-1315.Kane K.S.-M., Lio P.A., Stratigos A.J. Color atlas & synopsis of pediatric dermatology. New York: Medical. 2002. P. 227 - 231.Kane K.S.-M., Lio P.A., Stratigos A.J. Color atlas & synopsis of pediatric dermatology. New York: Medical. 2002. P. 227 - 231.Kang S.G., Ko Y.H., Kang S.H. et al. Two different renal cell carcinomas and multiple angiomyolipomas in a patient with tuberous sclerosis // Korean J. Urol. 2010. Vol. 51. P. 729-732.Kang S.G., Ko Y.H., Kang S.H. et al. Two different renal cell carcinomas and multiple angiomyolipomas in a patient with tuberous sclerosis // Korean J. Urol. 2010. Vol. 51. P. 729-732.Kessler O.J., Gillon G., Neuman M. et al. Management of renal angiomyolipoma: analysis of 15 cases // Eur. Urol. 1998. Vol. 33. P. 572-575.Kessler O.J., Gillon G., Neuman M. et al. Management of renal angiomyolipoma: analysis of 15 cases // Eur. Urol. 1998. Vol. 33. P. 572-575.Kobashi Y., Sugiu T., Mouri K.M. et al. Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: differentiation from multiple atypical adenomatous hyperplasia // Jpn. J. Clin. Oncol. 2008. Vol. 38. P. 451-454.Kobashi Y., Sugiu T., Mouri K.M. et al. Multifocal micronodular pneumocyte hyperplasia associated with tuberous sclerosis: differentiation from multiple atypical adenomatous hyperplasia // Jpn. J. Clin. Oncol. 2008. Vol. 38. P. 451-454.May M., Zigeuner R., Aziz A. et al. Postoperative prognosis of chromophobic renal cell carcinoma: Comparative analysis of the multinational CORONA database // Urologe A. 2013 Jul 10. [Epub ahead of print].May M., Zigeuner R., Aziz A. et al. Postoperative prognosis of chromophobic renal cell carcinoma: Comparative analysis of the multinational CORONA database // Urologe A. 2013 Jul 10. [Epub ahead of print].Mettin R.R., Merkenschlager A., Bernhard M.K. et al. Wide spectrum of clinical manifestations in children with tuberous sclerosis complex - Follow-up of 20 children // Brain Dev. 2013 Jun 7. pii: S0387-7604(13)00170-8.Mettin R.R., Merkenschlager A., Bernhard M.K. et al. Wide spectrum of clinical manifestations in children with tuberous sclerosis complex - Follow-up of 20 children // Brain Dev. 2013 Jun 7. pii: S0387-7604(13)00170-8.Osborne J.P., Jones A.C., Burley M.W. et al. Nonpenetrance in tuberous sclerosis // Lancet 2000. Vol. 355. P. 1698.Osborne J.P., Jones A.C., Burley M.W. et al. Nonpenetrance in tuberous sclerosis // Lancet 2000. Vol. 355. P. 1698.Rakowski S.K., Winterkorn E.B., Paul E. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors // Kidney Int. 2006. Vol. 70. P. 1777-1782.Rakowski S.K., Winterkorn E.B., Paul E. Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors // Kidney Int. 2006. Vol. 70. P. 1777-1782.Raman S.P., Johnson P.T., Allaf M.E. et al. Chromophobe renal cell carcinoma: multiphase MDCT enhancement patterns and morphologic features // Am. J. Roentgenol. 2013. Vol. 201(6). P. 1268-1276.Raman S.P., Johnson P.T., Allaf M.E. et al. Chromophobe renal cell carcinoma: multiphase MDCT enhancement patterns and morphologic features // Am. J. Roentgenol. 2013. Vol. 201(6). P. 1268-1276.Rouvière O., Nivet H., Grenier N. et al. Kidney damage due to tuberous sclerosis complex: management recommendations // Diagn. Interv. Imaging. 2013. Vol. 94(3). P. 225-237.Rouvière O., Nivet H., Grenier N. et al. Kidney damage due to tuberous sclerosis complex: management recommendations // Diagn. Interv. Imaging. 2013. Vol. 94(3). P. 225-237.Sancak O., Nellist M., Goedbloed M. et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex // Eur. J. Hum. Genet. 2005. Vol. 13. P. 731-741.Sancak O., Nellist M., Goedbloed M. et al. Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype-phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex // Eur. J. Hum. Genet. 2005. Vol. 13. P. 731-741.Schillinger F., Montagnac R. Chronic renal failure and its treatment in tuberous sclerosis // Nephrol. Dial. Transplant. 1996. Vol. 11. P. 481-485.Schillinger F., Montagnac R. Chronic renal failure and its treatment in tuberous sclerosis // Nephrol. Dial. Transplant. 1996. Vol. 11. P. 481-485.Talarico F., Capizzi D., Iusco D.R. Solitary liver metastasis of chromophobe renal cell carcinoma 17 years after nephrectomy. A case report and review of the literature // Ann. Ital. Chir. 2013 Oct 25. P. 84.Talarico F., Capizzi D., Iusco D.R. Solitary liver metastasis of chromophobe renal cell carcinoma 17 years after nephrectomy. A case report and review of the literature // Ann. Ital. Chir. 2013 Oct 25. P. 84.Tee A.R., Fingar D.C., Manning B.D. et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling // Proc. Natl. Acad. Sci. USA 2002. Vol. 99. P. 13571-13576.Tee A.R., Fingar D.C., Manning B.D. et al. Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling // Proc. Natl. Acad. Sci. USA 2002. Vol. 99. P. 13571-13576.Thoenes W., Storkel S.T., Rumpelt H.J. Human chromophobe cell renal carcinoma // Virchows Arch. (Cell Pathol.) 1985. Vol. 48. P. 207-217.Thoenes W., Storkel S.T., Rumpelt H.J. Human chromophobe cell renal carcinoma // Virchows Arch. (Cell Pathol.) 1985. Vol. 48. P. 207-217.Tiberio D., Franz D.N., Phillips J.R. Regression of a cardiac rhabdomyoma in a patient receiving everolimus // Pediatrics. 2011. Vol. 127. P. 1335-1337.Tiberio D., Franz D.N., Phillips J.R. Regression of a cardiac rhabdomyoma in a patient receiving everolimus // Pediatrics. 2011. Vol. 127. P. 1335-1337.van Slegtenhorst M., de Hoogt R., Hermans C. et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 // Science. 1997. Vol. 277. P. 805-808.van Slegtenhorst M., de Hoogt R., Hermans C. et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34 // Science. 1997. Vol. 277. P. 805-808.Wataya-Kaneda M., Tanaka M., Hamasaki T., Katayama I. Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients // PLoS One. 2013. Vol. 8(5). P. e63910.Wataya-Kaneda M., Tanaka M., Hamasaki T., Katayama I. Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients // PLoS One. 2013. Vol. 8(5). P. e63910.Zhang Y.-X., Meng H., Zhong D.-R. et al. Cardiac rhabdomyoma and renal cyst in a fetus. Early onset of tuberous sclerosis with renal cystic disease // J. Ultrasound. Med. 2008. Vol. 27. P. 979-982.Zhang Y.-X., Meng H., Zhong D.-R. et al. Cardiac rhabdomyoma and renal cyst in a fetus. Early onset of tuberous sclerosis with renal cystic disease // J. Ultrasound. Med. 2008. Vol. 27. P. 979-982.

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