<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">perinatology</journal-id><journal-title-group><journal-title xml:lang="ru">Российский вестник перинатологии и педиатрии</journal-title><trans-title-group xml:lang="en"><trans-title>Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1027-4065</issn><issn pub-type="epub">2500-2228</issn><publisher><publisher-name>Ltd. “The National Academy of Pediatric Science and Innovation”</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.21508/1027-4065-2025-0-5-21-28</article-id><article-id custom-type="elpub" pub-id-type="custom">perinatology-2271</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОБЗОРЫ ЛИТЕРАТУРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>LITERATURE REVIEWS</subject></subj-group></article-categories><title-group><article-title>Поражение почек при туберозном склерозе</article-title><trans-title-group xml:lang="en"><trans-title>Kidney damage in tuberous sclerosis</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0942-0103</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Морозов</surname><given-names>С. Л.</given-names></name><name name-style="western" xml:lang="en"><surname>Morozov</surname><given-names>S. L.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Морозов Сергей Леонидович — к.м.н., вед. науч. сотр. отдела наследственных и приобретенных болезней почек им. профессора М.С. Игнатовой НИКИ педиатрии и детской хирургии им. акад. Ю.Е. Вельтищева; доцент кафедры госпитальной педиатрии № 2 института материнства и детства РНИМУ им. Н.И. Пирогова.</p><p>125412, Москва; 117513, Москва</p></bio><bio xml:lang="en"><p>125412, Moscow; 117513, Moscow</p></bio><email xlink:type="simple">mser@list.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-7663-6070</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пирузиева</surname><given-names>О. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Piruzieva</surname><given-names>O. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Пирузиева Оксана Рашидовна — врач-нефролог отделения нефрологии.</p><p>125412, Москва, ул. Талдомская, д. 2</p></bio><bio xml:lang="en"><p>125412, Moscow</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0702-4932</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Приходина</surname><given-names>Л. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Prikhodina</surname><given-names>L. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Приходина Лариса Серафимовна — д.м.н., зав. отделом наследственных и приобретенных болезней почек имени профессора М.С. Игнатовой НИКИ педиатрии и детской хирургии им. акад. Ю.Е. Вельтищева; проф. кафедры педиатрии имени академика Г.Н. Сперанского дополнительного профессионального образования РМАНПО.</p><p>125412, Москва; 125993, Москва</p></bio><bio xml:lang="en"><p>125412, Moscow; 125993, Moscow</p></bio><xref ref-type="aff" rid="aff-3"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. акад. Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РФ; ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, 117513, Москва, Российская Федерация</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Veltischev Research and Clinical Institute for pediatrics and pediatric surgery; Pirogov Russian National Research Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. акад. Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РФ</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Veltischev Research and Clinical Institute for pediatrics and pediatric surgery</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. акад. Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РФ; ФГОУ ДПО «Российская Медицинская Академия Непрерывного профессионального образования» Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Veltischev Research and Clinical Institute for pediatrics and pediatric surgery; Russian Medical Academy of Continuous Professional Education</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>14</day><month>11</month><year>2025</year></pub-date><volume>70</volume><issue>5</issue><fpage>21</fpage><lpage>28</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Ltd. “The National Academy of Pediatric Science and Innovation”, 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Ltd. “The National Academy of Pediatric Science and Innovation”</copyright-holder><copyright-holder xml:lang="en">Ltd. “The National Academy of Pediatric Science and Innovation”</copyright-holder><license xlink:href="https://www.ped-perinatology.ru/jour/about/submissions#copyrightNotice" xlink:type="simple"><license-p>https://www.ped-perinatology.ru/jour/about/submissions#copyrightNotice</license-p></license></permissions><self-uri xlink:href="https://www.ped-perinatology.ru/jour/article/view/2271">https://www.ped-perinatology.ru/jour/article/view/2271</self-uri><abstract><p>Туберозный склероз — редкое генетическое заболевание, характеризующееся развитием доброкачественных опухолей в различных органах, включая почки. Поражение почек при туберозном склерозе наиболее часто представлено ангиомиолипомами и кистами, которые могут приводить к различным осложнениям, таким как кровотечения, почечная недостаточность и злокачественная трансформация. В представленной обзорной статье рассматриваются современные представления о патогенезе, клинических проявлениях, диагностике и методах лечения поражения почек при туберозном склерозе, а также перспективы дальнейших исследований в данной области.</p></abstract><trans-abstract xml:lang="en"><p>Tuberous sclerosis is a rare genetic disease characterized by the development of benign tumors in various organs, including the kidneys. Renal lesions in tuberous sclerosis are most often represented by angiomyolipomas and cysts, which can lead to various complications, such as bleeding, renal failure and malignant transformation. This review article examines current concepts of the pathogenesis, clinical manifestations, diagnostics and treatment methods of renal lesions in tuberous sclerosis, as well as prospects for further research in this area.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>дети</kwd><kwd>туберозный склероз</kwd><kwd>кисты почек</kwd><kwd>ангиомиолипомы</kwd><kwd>TSC1</kwd><kwd>TSC2</kwd></kwd-group><kwd-group xml:lang="en"><kwd>сhildren</kwd><kwd>tuberous sclerosis</kwd><kwd>renal cysts</kwd><kwd>angiomyolipomas</kwd><kwd>TSC1</kwd><kwd>TSC2</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа выполнена в рамках финансирования Госзадания «Клинические и молекулярно-генетические критерии прогнозирования эффективности таргетной терапии поражения почек при туберозном склерозе у детей». № 1024022200001–0–3.2.3;3.2.20 от 1 апреля 2025 г.</funding-statement><funding-statement xml:lang="en">The work was carried out within the framework of the State Assignment “Clinical and molecular genetic criteria for predicting the effectiveness of targeted therapy for kidney damage in tuberous sclerosis in children”. № 1024022200001–0–3.2.3;3.2.20 dated April 1, 2025.</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Borkowska J., Schwartz R.A., Kotulska K., Jozwiak S. Tuberous sclerosis complex: tumors and tumorigenesis. Int J Dermatol. 2011; 50(1): 13–20. DOI: 10.1111/j.1365-4632.2010.04727.x</mixed-citation><mixed-citation xml:lang="en">Borkowska J., Schwartz R.A., Kotulska K., Jozwiak S. Tuberous sclerosis complex: tumors and tumorigenesis. Int J Dermatol. 2011; 50(1): 13–20. DOI: 10.1111/j.1365-4632.2010.04727.x</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Huang J., Manning B.D. The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J. 2008; 412(2): 179–190. DOI: 10.1042/BJ20080281</mixed-citation><mixed-citation xml:lang="en">Huang J., Manning B.D. The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J. 2008; 412(2): 179–190. DOI: 10.1042/BJ20080281</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Морозов С.Л, Пирузиева О.Р., Дорофеева М.Ю., Тарасова О.В., Длин В.В. Ангиомиолипомы почек у детей при туберозном склерозе — современное состояние проблемы. Практическая Медицина [Internet]. 2022; 20(2): 45–49 DOI: 10.32000/2072-1757-2022-2-45-49.</mixed-citation><mixed-citation xml:lang="en">Morozov S.L., Piruziyeva O.R., Dorofeyeva M.Yu., Tarasova O.V., Dlin V.V. Renal angiomyolipomas in children with tuberous sclerosis — the current state of the problem. Prakticheskaya Meditsina. 2022; 20(2): 45–49. (in Russ) DOI: 10.32000/2072-1757-2022-2-45-49</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Curatolo P., Bombardieri R., Jozwiak S. Tuberous sclerosis. The Lancet. 2008; 372(9639):657–668. DOI: 10.1016/S0140-6736(08)61279-9</mixed-citation><mixed-citation xml:lang="en">Curatolo P., Bombardieri R., Jozwiak S. Tuberous sclerosis. The Lancet. 2008; 372(9639):657–668. DOI: 10.1016/S0140-6736(08)61279-9</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Northrup H., Krueger D., Northrup H., Krueger D.A., Roberds S., Smith K., et al. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology 2013; 49(4): 243–254. DOI: 10.1016/j.pediatrneurol.2013.08.001</mixed-citation><mixed-citation xml:lang="en">Northrup H., Krueger D., Northrup H., Krueger D.A., Roberds S., Smith K., et al. Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric Neurology 2013; 49(4): 243–254. DOI: 10.1016/j.pediatrneurol.2013.08.001</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">van Slegtenhorst M., de Hoogt R., Hermans C., Nellist M., Janssen B., Verhoef S., et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997; 277(5327):805–808. DOI: 10.1126/science.277.5327.805</mixed-citation><mixed-citation xml:lang="en">van Slegtenhorst M., de Hoogt R., Hermans C., Nellist M., Janssen B., Verhoef S., et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997; 277(5327):805–808. DOI: 10.1126/science.277.5327.805</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Northrup H., Aronow M.E., Bebin E.M., Bissler J., Darling T.N., de Vries P.J., et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol. 2021; 123: 50–66. DOI: 10.1016/j.pediatrneurol.2021.07.011</mixed-citation><mixed-citation xml:lang="en">Northrup H., Aronow M.E., Bebin E.M., Bissler J., Darling T.N., de Vries P.J., et al. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol. 2021; 123: 50–66. DOI: 10.1016/j.pediatrneurol.2021.07.011</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">O’Callaghan F.J., Noakes M.J., Martyn C.N., Osborne J.P. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int. 2004; 94(6): 853–857. DOI: 10.1111/j.1464-410X.2004.05046.x</mixed-citation><mixed-citation xml:lang="en">O’Callaghan F.J., Noakes M.J., Martyn C.N., Osborne J.P. An epidemiological study of renal pathology in tuberous sclerosis complex. BJU Int. 2004; 94(6): 853–857. DOI: 10.1111/j.1464-410X.2004.05046.x</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Martignoni G., Pea M., Rocca P.C., Bonetti F. Renal pathology in the tuberous sclerosis complex. Pathology. 2003; 35(6): 505–512. DOI: 10.1080/00313020310001619136</mixed-citation><mixed-citation xml:lang="en">Martignoni G., Pea M., Rocca P.C., Bonetti F. Renal pathology in the tuberous sclerosis complex. Pathology. 2003; 35(6): 505–512. DOI: 10.1080/00313020310001619136</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Zöllner J.P., Franz D.N., Hertzberg C., Nabbout R., Rosenow F., Sauter M., et al. A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC). Orphanet J Rare dis. 2020; 15(1): 23. DOI: 10.1186/s13023-019-1258-3</mixed-citation><mixed-citation xml:lang="en">Zöllner J.P., Franz D.N., Hertzberg C., Nabbout R., Rosenow F., Sauter M., et al. A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC). Orphanet J Rare dis. 2020; 15(1): 23. DOI: 10.1186/s13023-019-1258-3</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Bissler J.J., Kingswood J.C. Optimal treatment of tuberous sclerosis complex associated renal angiomyolipomata: a systematic review. Ther Adv Urol. 2016; 8(4): 279–290. DOI: 10.1177/1756287216641353</mixed-citation><mixed-citation xml:lang="en">Bissler J.J., Kingswood J.C. Optimal treatment of tuberous sclerosis complex associated renal angiomyolipomata: a systematic review. Ther Adv Urol. 2016; 8(4): 279–290. DOI: 10.1177/1756287216641353</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Mekahli D., Müller R-U., Marlais M., Wlodkowski T., Haeberle S., De Argumedo M.L., et al. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes &amp; Kidney Working Group. Nat Rev Nephrol. 2024; 20(6): 402–420. DOI: 10.1038/s41581-024-00818-0</mixed-citation><mixed-citation xml:lang="en">Mekahli D., Müller R-U., Marlais M., Wlodkowski T., Haeberle S., De Argumedo M.L., et al. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes &amp; Kidney Working Group. Nat Rev Nephrol. 2024; 20(6): 402–420. DOI: 10.1038/s41581-024-00818-0</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Stillwell T.J., Gomez M.R., Kelalis P.P. Renal lesions in tuberous sclerosis. J Urol. 1987; 138(3): 477–481. DOI: 10.1016/s0022-5347(17)43234-4</mixed-citation><mixed-citation xml:lang="en">Stillwell T.J., Gomez M.R., Kelalis P.P. Renal lesions in tuberous sclerosis. J Urol. 1987; 138(3): 477–481. DOI: 10.1016/s0022-5347(17)43234-4</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Подольная М.А., Кобринский Б.А., Белоусова Е.Д., Дорофеева М.Ю., Пивоварова (Горейко) А.М. Регистр больных туберозным склерозом RU 2017620527. 2017</mixed-citation><mixed-citation xml:lang="en">Podolnaya M.A., Kobrinsky B.A., Belousova E.D., Dorofeeva M.Yu., Pivovarova (Goreiko) A.M. Tuberous sclerosis patient registry RU 2017620527. 2017 (in Russ)</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Алтунина Г.Е., Балаян И.Г., Белоусова Е.Д., Березницкая В.В., Божко О.В., Верченко Е.Г., и др. Туберозный склероз. Диагностика и лечение. Адаре. 2017: 288.</mixed-citation><mixed-citation xml:lang="en">Altunina G.E., Balayan I.G., Belousova E.D., Bereznitskaya V.V., Bozhko O.V., Verchenko E.G. et al. Tuberous sclerosis. Diagnosis and treatment. Adare. 2017: 288 (in Russ)</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Морозов С.Л., Пирузиева О.Р., Дорофеева М.Ю., Катышева О.В., Тарасова О.В., Сахарова Е.С. и др. Проблемы поликистоза почек у детей с туберозным склерозом на современном этапе. Медицинский Оппонент. 2022;(3 (19)):45–50.</mixed-citation><mixed-citation xml:lang="en">Morozov S.L., Piruziyeva O.R., Dorofeyeva M.YU., Katysheva O.V., Tarasova O.V., Sakharova Y.S., et al. Problems of polycystic kidney disease in children with tuberous sclerosis at the present stage. Meditsinskiy Opponent. 2022;(3 (19)):45–50 (in Russ);</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Kingswood J.C., d’Augères G.B., Belousova E., Ferreira J.C., Carter T., Castellana R. et al. TuberOus SClerosis registry to increase disease Awareness (TOSCA) — baseline data on 2093 patients. Orphanet J Rare Dis. 2017; 12: 2. DOI: 10.1186/s13023-016-0553-5</mixed-citation><mixed-citation xml:lang="en">Kingswood J.C., d’Augères G.B., Belousova E., Ferreira J.C., Carter T., Castellana R. et al. TuberOus SClerosis registry to increase disease Awareness (TOSCA) — baseline data on 2093 patients. Orphanet J Rare Dis. 2017; 12: 2. DOI: 10.1186/s13023-016-0553-5</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Rouvière O., Nivet H., Grenier N., Zini L., Lechevallier E. Kidney damage due to tuberous sclerosis complex: management recommendations. Diagn Interv Imaging. 2013; 94(3): 225–237. DOI: 10.1016/j.diii.2013.01.003</mixed-citation><mixed-citation xml:lang="en">Rouvière O., Nivet H., Grenier N., Zini L., Lechevallier E. Kidney damage due to tuberous sclerosis complex: management recommendations. Diagn Interv Imaging. 2013; 94(3): 225–237. DOI: 10.1016/j.diii.2013.01.003</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Bains L., Bhatia R., Lal P., Bhagria G. Giant bilateral angiomyolipoma of the kidney. Ann R Coll Surg Engl. 2021. 103(6):e184-e188. DOI: 10.1308/rcsann.2020.7036</mixed-citation><mixed-citation xml:lang="en">Bains L., Bhatia R., Lal P., Bhagria G. Giant bilateral angiomyolipoma of the kidney. Ann R Coll Surg Engl. 2021. 103(6):e184-e188. DOI: 10.1308/rcsann.2020.7036</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Dabora S.L., Jozwiak S., Franz D.N., Roberts P.S., Nieto A., Chung J. et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001; 68(1): 64–80. DOI: 10.1086/316951</mixed-citation><mixed-citation xml:lang="en">Dabora S.L., Jozwiak S., Franz D.N., Roberts P.S., Nieto A., Chung J. et al. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet. 2001; 68(1): 64–80. DOI: 10.1086/316951</mixed-citation></citation-alternatives></ref><ref id="cit21"><label>21</label><citation-alternatives><mixed-citation xml:lang="ru">Budde K., Gaedeke J. Tuberous Sclerosis Complex–Associated Angiomyolipomas: Focus on mTOR Inhibition. American Journal of Kidney Diseases. 2012; 59(2): 276–283. DOI: 10.1053/j.ajkd.2011.10.013</mixed-citation><mixed-citation xml:lang="en">Budde K., Gaedeke J. Tuberous Sclerosis Complex–Associated Angiomyolipomas: Focus on mTOR Inhibition. American Journal of Kidney Diseases. 2012; 59(2): 276–283. DOI: 10.1053/j.ajkd.2011.10.013</mixed-citation></citation-alternatives></ref><ref id="cit22"><label>22</label><citation-alternatives><mixed-citation xml:lang="ru">Kingswood J.C., Belousova E., Benedik M.P., Carter T., Cottin V., Curatolo P. et al. Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. Nephrol Dial Transplant. 2019; 34(3): 502–508. DOI: 10.1093/ndt/gfy063</mixed-citation><mixed-citation xml:lang="en">Kingswood J.C., Belousova E., Benedik M.P., Carter T., Cottin V., Curatolo P. et al. Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. Nephrol Dial Transplant. 2019; 34(3): 502–508. DOI: 10.1093/ndt/gfy063</mixed-citation></citation-alternatives></ref><ref id="cit23"><label>23</label><citation-alternatives><mixed-citation xml:lang="ru">Johnson S.R., Cordier J.F., Lazor R., Cottin V., Costabel U., Harari S. et al. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur Respir J. 2010; 35(1): 14–26. DOI: 10.1183/09031936.00076209</mixed-citation><mixed-citation xml:lang="en">Johnson S.R., Cordier J.F., Lazor R., Cottin V., Costabel U., Harari S. et al. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur Respir J. 2010; 35(1): 14–26. DOI: 10.1183/09031936.00076209</mixed-citation></citation-alternatives></ref><ref id="cit24"><label>24</label><citation-alternatives><mixed-citation xml:lang="ru">Muller A., Rouvière O. Renal artery embolization—indications, technical approaches and outcomes. Nat Rev Nephrol. 2015; 11(5): 288–301. DOI: 10.1038/nrneph.2014.231</mixed-citation><mixed-citation xml:lang="en">Muller A., Rouvière O. Renal artery embolization—indications, technical approaches and outcomes. Nat Rev Nephrol. 2015; 11(5): 288–301. DOI: 10.1038/nrneph.2014.231</mixed-citation></citation-alternatives></ref><ref id="cit25"><label>25</label><citation-alternatives><mixed-citation xml:lang="ru">Krueger D.A., Northrup H., Northrup H., Krueger D.A., Roberds S., Smith K. et al. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. PediatricNeurology.2013; 49(4): 255–265</mixed-citation><mixed-citation xml:lang="en">Krueger D.A., Northrup H., Northrup H., Krueger D.A., Roberds S., Smith K. et al. Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. PediatricNeurology.2013; 49(4): 255–265</mixed-citation></citation-alternatives></ref><ref id="cit26"><label>26</label><citation-alternatives><mixed-citation xml:lang="ru">Siroky B.J., Czyzyk-Krzeska M.F., Bissler J.J. Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms? Nat Clin Pract Nephrol. 2009; 5(3): 143–156. DOI: 10.1038/ncpneph1032</mixed-citation><mixed-citation xml:lang="en">Siroky B.J., Czyzyk-Krzeska M.F., Bissler J.J. Renal involvement in tuberous sclerosis complex and von Hippel-Lindau disease: shared disease mechanisms? Nat Clin Pract Nephrol. 2009; 5(3): 143–156. DOI: 10.1038/ncpneph1032</mixed-citation></citation-alternatives></ref><ref id="cit27"><label>27</label><citation-alternatives><mixed-citation xml:lang="ru">Henderson R.J., Germany R., Peavy P.W., Eastham J.A., Venable D.D. Fat density in renal cell carcinoma: demonstration with computerized tomography. J Urol. 1997; 157(4): 1347–1348</mixed-citation><mixed-citation xml:lang="en">Henderson R.J., Germany R., Peavy P.W., Eastham J.A., Venable D.D. Fat density in renal cell carcinoma: demonstration with computerized tomography. J Urol. 1997; 157(4): 1347–1348</mixed-citation></citation-alternatives></ref><ref id="cit28"><label>28</label><citation-alternatives><mixed-citation xml:lang="ru">Морозов С.Л., Пирузиева О.Р., Длин В.В. Эффективность таргетной терапии поражения почек при туберозном склерозе у ребенка (клинический случай). Нефрология. 2021; 25(4): 90–94. DOI: 10.36485/1561-6274-2021-25-4-90-94.</mixed-citation><mixed-citation xml:lang="en">Morozov S.L., Piruziyeva O.R., Dlin V.V. Efficiency of targeted therapy for kidney damage in tuberous sclerosis in a child (clinical case). Nefrologiya. 2021; 25(4): 90–94. (in Russ). DOI: 10.36485/1561-6274-2021-25-4-90-94</mixed-citation></citation-alternatives></ref><ref id="cit29"><label>29</label><citation-alternatives><mixed-citation xml:lang="ru">Napolioni V., Moavero R., Curatolo P. Recent advances in neurobiology of Tuberous Sclerosis Complex. Brain and Development. 2009; 31(2): 104–113. DOI: 10.1016/j.brain-dev.2008.09.013</mixed-citation><mixed-citation xml:lang="en">Napolioni V., Moavero R., Curatolo P. Recent advances in neurobiology of Tuberous Sclerosis Complex. Brain and Development. 2009; 31(2): 104–113. DOI: 10.1016/j.brain-dev.2008.09.013</mixed-citation></citation-alternatives></ref><ref id="cit30"><label>30</label><citation-alternatives><mixed-citation xml:lang="ru">Siroky B.J., Yin H., Bissler J.J. Clinical and Molecular Insights into Tuberous Sclerosis Complex Renal Disease. Pediatr Nephrol. 2011; 26(6): 839–852. DOI: 10.1007/s00467-010-1689-5</mixed-citation><mixed-citation xml:lang="en">Siroky B.J., Yin H., Bissler J.J. Clinical and Molecular Insights into Tuberous Sclerosis Complex Renal Disease. Pediatr Nephrol. 2011; 26(6): 839–852. DOI: 10.1007/s00467-010-1689-5</mixed-citation></citation-alternatives></ref><ref id="cit31"><label>31</label><citation-alternatives><mixed-citation xml:lang="ru">Magaki S.D., Vinters H.V. Tuberous Sclerosis Complex. In: Developmental Neuropathology. Editors Adle-Biassette H., Harding B.N., Golden J. Wiley; 2018; 117–131</mixed-citation><mixed-citation xml:lang="en">Magaki S.D., Vinters H.V. Tuberous Sclerosis Complex. In: Developmental Neuropathology. Editors Adle-Biassette H., Harding B.N., Golden J. Wiley; 2018; 117–131</mixed-citation></citation-alternatives></ref><ref id="cit32"><label>32</label><citation-alternatives><mixed-citation xml:lang="ru">Игнатова М.С. Кистозы почек у детей с позиций цилиопатий. Педиатрия. Журнал им. Г.Н. Сперанского. 2012; 91(3): 110–116</mixed-citation><mixed-citation xml:lang="en">Ignatova M.S. Kidney cysts in children from the standpoint of ciliopathies. Pediatriya. Zhurnal im. G.N. Speranskogo. 2012; 91(3): 110–116 (in Russ)</mixed-citation></citation-alternatives></ref><ref id="cit33"><label>33</label><citation-alternatives><mixed-citation xml:lang="ru">Kleymenova E., Ibraghimov-Beskrovnaya O., Kugoh H., Everitt J., Xu H., Kiguchi K., et al. Tuberin-Dependent Membrane Localization of Polycystin-1. Molecular Cell. 2001; 7(4): 823–832. DOI: 10.1016/S1097-2765(01)00226-X</mixed-citation><mixed-citation xml:lang="en">Kleymenova E., Ibraghimov-Beskrovnaya O., Kugoh H., Everitt J., Xu H., Kiguchi K., et al. Tuberin-Dependent Membrane Localization of Polycystin-1. Molecular Cell. 2001; 7(4): 823–832. DOI: 10.1016/S1097-2765(01)00226-X</mixed-citation></citation-alternatives></ref><ref id="cit34"><label>34</label><citation-alternatives><mixed-citation xml:lang="ru">Kingswood J.C., Belousova E., Benedik M.P., Carter T., Cottin V., Curatolo P. et al. Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas. Front. Neurol. 2020; 11: 972. DOI: 10.3389/fneur.2020.00972</mixed-citation><mixed-citation xml:lang="en">Kingswood J.C., Belousova E., Benedik M.P., Carter T., Cottin V., Curatolo P. et al. Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas. Front. Neurol. 2020; 11: 972. DOI: 10.3389/fneur.2020.00972</mixed-citation></citation-alternatives></ref><ref id="cit35"><label>35</label><citation-alternatives><mixed-citation xml:lang="ru">Nelson C.P., Sanda M.G. Contemporary diagnosis and management of renal angiomyolipoma. J Urol. 2002; 168(4 Pt 1):1315–1325. DOI: 10.1016/S0022-5347(05)64440-0</mixed-citation><mixed-citation xml:lang="en">Nelson C.P., Sanda M.G. Contemporary diagnosis and management of renal angiomyolipoma. J Urol. 2002; 168(4 Pt 1):1315–1325. DOI: 10.1016/S0022-5347(05)64440-0</mixed-citation></citation-alternatives></ref><ref id="cit36"><label>36</label><citation-alternatives><mixed-citation xml:lang="ru">Sooriakumaran P., Gibbs P., Coughlin G., Attard V., Elmslie F., Kingswood C. et al. Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated. BJU Int. 2010; 105(1): 101–106. DOI: 10.1111/j.1464-410X.2009.08649.x</mixed-citation><mixed-citation xml:lang="en">Sooriakumaran P., Gibbs P., Coughlin G., Attard V., Elmslie F., Kingswood C. et al. Angiomyolipomata: challenges, solutions, and future prospects based on over 100 cases treated. BJU Int. 2010; 105(1): 101–106. DOI: 10.1111/j.1464-410X.2009.08649.x</mixed-citation></citation-alternatives></ref><ref id="cit37"><label>37</label><citation-alternatives><mixed-citation xml:lang="ru">Uysal S.P., Şahin M. Tuberous sclerosis: a review of the past, present, and future. Turk J Med Sci. 2020; 50(SI-2):1665–1676. DOI: 10.3906/sag-2002-133</mixed-citation><mixed-citation xml:lang="en">Uysal S.P., Şahin M. Tuberous sclerosis: a review of the past, present, and future. Turk J Med Sci. 2020; 50(SI-2):1665–1676. DOI: 10.3906/sag-2002-133</mixed-citation></citation-alternatives></ref><ref id="cit38"><label>38</label><citation-alternatives><mixed-citation xml:lang="ru">Zoncu R., Bar-Peled L., Efeyan A., Wang S., Sancak Y., Sabatini D.M. mTORC1 senses lysosomal amino acids through an inside-out mechanism that requires the vacuolar H(+)-AT-Pase. Science. 2011; 334(6056):678–683. DOI: 10.1126/science.1207056</mixed-citation><mixed-citation xml:lang="en">Zoncu R., Bar-Peled L., Efeyan A., Wang S., Sancak Y., Sabatini D.M. mTORC1 senses lysosomal amino acids through an inside-out mechanism that requires the vacuolar H(+)-AT-Pase. Science. 2011; 334(6056):678–683. DOI: 10.1126/science.1207056</mixed-citation></citation-alternatives></ref><ref id="cit39"><label>39</label><citation-alternatives><mixed-citation xml:lang="ru">Franz D.N., Belousova E., Sparagana S., Bebin E.M., Frost M., Kuperman R. et al. Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study. Lancet Oncol. 2014; 15(13): 1513–1520. DOI: 10.1016/S1470-2045(14)70489-9</mixed-citation><mixed-citation xml:lang="en">Franz D.N., Belousova E., Sparagana S., Bebin E.M., Frost M., Kuperman R. et al. Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study. Lancet Oncol. 2014; 15(13): 1513–1520. DOI: 10.1016/S1470-2045(14)70489-9</mixed-citation></citation-alternatives></ref><ref id="cit40"><label>40</label><citation-alternatives><mixed-citation xml:lang="ru">Bissler J.J., Kingswood J.C., Radzikowska E., Zonnenberg B.A., Frost M., Belousova 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; 381(9869):817–824. DOI: 10.1016/S0140-6736(12)61767-X</mixed-citation><mixed-citation xml:lang="en">Bissler J.J., Kingswood J.C., Radzikowska E., Zonnenberg B.A., Frost M., Belousova 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; 381(9869):817–824. DOI: 10.1016/S0140-6736(12)61767-X</mixed-citation></citation-alternatives></ref><ref id="cit41"><label>41</label><citation-alternatives><mixed-citation xml:lang="ru">Bissler J.J., Budde K., Sauter M., Franz D.N., Zonnenberg B.A., Frost M.D. et al. Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2. Nephrol Dial Transplant. 2019; 34(6): 1000–1008. DOI: 10.1093/ndt/gfy132</mixed-citation><mixed-citation xml:lang="en">Bissler J.J., Budde K., Sauter M., Franz D.N., Zonnenberg B.A., Frost M.D. et al. Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2. Nephrol Dial Transplant. 2019; 34(6): 1000–1008. DOI: 10.1093/ndt/gfy132</mixed-citation></citation-alternatives></ref><ref id="cit42"><label>42</label><citation-alternatives><mixed-citation xml:lang="ru">Janssens P., Van Hoeve K., De Waele L., De Rechter S., Claes K.J., Van de Perre E. et al. Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study. Pediatr Nephrol. 2018; 33(11): 2085–2093. DOI: 10.1007/s00467-018-4003-6</mixed-citation><mixed-citation xml:lang="en">Janssens P., Van Hoeve K., De Waele L., De Rechter S., Claes K.J., Van de Perre E. et al. Renal progression factors in young patients with tuberous sclerosis complex: a retrospective cohort study. Pediatr Nephrol. 2018; 33(11): 2085–2093. DOI: 10.1007/s00467-018-4003-6</mixed-citation></citation-alternatives></ref><ref id="cit43"><label>43</label><citation-alternatives><mixed-citation xml:lang="ru">Skrzypczyk P., Wabik A.M., Szyszka M., Józwiak S., Bombiński P., Jakimów-Kostrzewa A. et al. Early Vascular Aging in Children With Tuberous Sclerosis Complex. Front Pediatr. 2021; 9: 767394. DOI: 10.3389/fped.2021.767394</mixed-citation><mixed-citation xml:lang="en">Skrzypczyk P., Wabik A.M., Szyszka M., Józwiak S., Bombiński P., Jakimów-Kostrzewa A. et al. Early Vascular Aging in Children With Tuberous Sclerosis Complex. Front Pediatr. 2021; 9: 767394. DOI: 10.3389/fped.2021.767394</mixed-citation></citation-alternatives></ref><ref id="cit44"><label>44</label><citation-alternatives><mixed-citation xml:lang="ru">Massella L., Mekahli D., Paripović D., Prikhodina L., Godefroid N., Niemirska A. et al. Prevalence of Hypertension in Children with Early-Stage ADPKD. Clin J Am Soc Nephrol. 2018; 13(6): 874–883. DOI: 10.2215/CJN.11401017</mixed-citation><mixed-citation xml:lang="en">Massella L., Mekahli D., Paripović D., Prikhodina L., Godefroid N., Niemirska A. et al. Prevalence of Hypertension in Children with Early-Stage ADPKD. Clin J Am Soc Nephrol. 2018; 13(6): 874–883. DOI: 10.2215/CJN.11401017</mixed-citation></citation-alternatives></ref><ref id="cit45"><label>45</label><citation-alternatives><mixed-citation xml:lang="ru">Sugiura H., Shimada T., Moriya-Ito K., Goto J-I., Fujiwara H., Ishii R. et al. A Farnesyltransferase Inhibitor Restores Cognitive Deficits in Tsc2+/– Mice through Inhibition of Rheb1. J. Neurosci. 2022; 42(12): 2598–2612. DOI: 10.1523/JNEU-ROSCI.0449-21.2022</mixed-citation><mixed-citation xml:lang="en">Sugiura H., Shimada T., Moriya-Ito K., Goto J-I., Fujiwara H., Ishii R. et al. A Farnesyltransferase Inhibitor Restores Cognitive Deficits in Tsc2+/– Mice through Inhibition of Rheb1. J. Neurosci. 2022; 42(12): 2598–2612. DOI: 10.1523/JNEU-ROSCI.0449-21.2022</mixed-citation></citation-alternatives></ref><ref id="cit46"><label>46</label><citation-alternatives><mixed-citation xml:lang="ru">Muroga C., Yokoyama H., Kinoshita R., Fujimori D., Yamada Y., Okanishi T. et al. A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts. CEN Case Rep. 2024; 13(5): 351–355. DOI: 10.1007/s13730-024-00854-6</mixed-citation><mixed-citation xml:lang="en">Muroga C., Yokoyama H., Kinoshita R., Fujimori D., Yamada Y., Okanishi T. et al. A child with TSC2/PKD1 contiguous gene deletion syndrome successfully treated with tolvaptan for rapidly enlarging renal cysts. CEN Case Rep. 2024; 13(5): 351–355. DOI: 10.1007/s13730-024-00854-6</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
