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<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">problendo</journal-id><journal-title-group><journal-title xml:lang="ru">Проблемы Эндокринологии</journal-title><trans-title-group xml:lang="en"><trans-title>Problems of Endocrinology</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">0375-9660</issn><issn pub-type="epub">2308-1430</issn><publisher><publisher-name>Endocrinology Research Centre</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.14341/probl13510</article-id><article-id custom-type="elpub" pub-id-type="custom">problendo-13510</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>Детская эндокринология</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>Pediatric Endocrinology</subject></subj-group></article-categories><title-group><article-title>Семейный случай синдрома фон Хиппеля-Линдау</article-title><trans-title-group xml:lang="en"><trans-title>A Family case of von Hippel-Lindau syndrome</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5811-0024</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Атанесян</surname><given-names>Р. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Atanesyan</surname><given-names>R. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Атанесян Роза Артуровна, к.м.н., доцент кафедры эндокринологии и детской эндокринологии </p><p>355017, Ставрополь, ул. Мира, д. 310</p></bio><bio xml:lang="en"><p>Roza A. Atanesyan, PhD of Medical Sciences</p><p>310 Mira street, 355017 Stavropol</p></bio><email xlink:type="simple">rozaatanesyan@rambler.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/0000-0001-7248-1614</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Климов</surname><given-names>Л. Я.</given-names></name><name name-style="western" xml:lang="en"><surname>Klimov</surname><given-names>L. Y.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Климов Леонид Яковлевич, д.м.н., профессор, заведующий кафедрой факультетской педиатрии</p><p>Ставрополь</p></bio><bio xml:lang="en"><p>Leonid Y. Klimov, MD, Professor</p><p>Stavropol</p></bio><email xlink:type="simple">klimov_leo@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0355-3116</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Вдовина</surname><given-names>Т. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Vdovina</surname><given-names>T. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Вдовина Татьяна Михайловна, к.м.н. </p><p>Ставрополь</p></bio><bio xml:lang="en"><p>Tatiana M. Vdovina, PhD of Medical Sciences</p><p>Stavropol</p></bio><email xlink:type="simple">vdovina.71.71@mail.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0489-254X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Санеева</surname><given-names>Г. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Saneeva</surname><given-names>G. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Санеева Галина Александровна, к.м.н., доцент, заведующий кафедрой эндокринологии и детской эндокринологии </p><p>Ставрополь</p></bio><bio xml:lang="en"><p>Galina A. Saneeva, PhD of Medical Sciences, Docent</p><p>Stavropol</p></bio><email xlink:type="simple">sun-stav@yandex.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-0034-8616</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Андреева</surname><given-names>Е. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Andreeva</surname><given-names>E. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Андреева Елена Ивановна, к.м.н. , доцент кафедры эндокринологии и детской эндокринологии </p><p>Ставрополь</p></bio><bio xml:lang="en"><p>Elena I. Andreeva, PhD of Medical Sciences</p><p>Stavropol</p></bio><email xlink:type="simple">eandreeva-doctor@yandex.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0008-6596-8334</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гаспарян</surname><given-names>И. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Gasparian</surname><given-names>I. K.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Гаспарян Илона Кимовна, студентка 6 курса педиатрического факультета </p><p>Ставрополь</p></bio><bio xml:lang="en"><p>Ilona K. Gasparian, 6th year student of the Faculty of Pediatrics</p><p>Stavropol</p></bio><email xlink:type="simple">ilonagasparian@gmail.com</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Ставропольский государственный медицинский университет;&#13;
Краевой эндокринологический диспансер</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Stavropol State Medical University;&#13;
Regional endocrinological dispensary</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Ставропольский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Stavropol State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Краевой клинический перинатальный центр №1</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Stavropol Regional Clinical Perinatal Center №1</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>02</day><month>12</month><year>2025</year></pub-date><volume>71</volume><issue>5</issue><fpage>68</fpage><lpage>74</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Атанесян Р.А., Климов Л.Я., Вдовина Т.М., Санеева Г.А., Андреева Е.И., Гаспарян И.К., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Атанесян Р.А., Климов Л.Я., Вдовина Т.М., Санеева Г.А., Андреева Е.И., Гаспарян И.К.</copyright-holder><copyright-holder xml:lang="en">Atanesyan R.A., Klimov L.Y., Vdovina T.M., Saneeva G.A., Andreeva E.I., Gasparian I.K.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.probl-endojournals.ru/jour/article/view/13510">https://www.probl-endojournals.ru/jour/article/view/13510</self-uri><abstract><p>Синдром фон Хиппеля-Линдау (ФХЛ) — редкое аутосомно-доминантное заболевание, которое приводит к формированию синдрома множественной неоплазии. Патология в первую очередь вызвана инактивацией гена VHL, который расположен на хромосоме 3 (3p25/26) и кодирует фермент убиквитинлигазу, влияющую на гипоксией индуцируемый фактор-1α (HIF-1α). Генетический дефект сопровождается накоплением белка HIF-1α, активируя ключевые канцерогенные пути, а активированные цитокины вызывают избыточную пролиферацию опухолевых клеток и онкогенез. К настоящему времени зарегистрировано более 500 мутаций в VHL. Синдром ФХЛ характеризуется различными опухолями, включая гемангиобластомы сетчатки и центральной нервной системы, феохромоцитомы, кистозную аденому и другие.</p><p>В представленном клиническом описании феохромоцитома вначале была диагностирована у мамы пациента, а через 2 месяца у старшего сына. В последующем результаты молекулярно-генетического исследования позволили верифицировать диагноз, так как в гене в 3 экзоне VHL обнаружена замена одного нуклеотида в гетерозиготном состоянии с.500 G&gt;А, приводящая к замене аминокислоты p.R167Q. Идентификация мутации гена VHL требовала генетического консультирования всех членов семьи, в ходе которого аналогичная мутация идентифицирована и у младшего брата. Хирургическое лечение, безусловно, является основным методом лечения синдрома ФХЛ, однако достижения в области генетической диагностики открывают новые горизонты в терапии данных пациентов.</p></abstract><trans-abstract xml:lang="en"><p>Von Hippel-Lindau syndrome (FHL) is a rare autosomal dominant disease that leads to the formation of multiple organ tumor syndrome. The pathology is primarily caused by the inactivation of the VHL gene, which is located on chromosome 3 (3p25/26) and encodes ubiquitin ligase, which destroys hypoxia-induced factor-1α (HIF-1α). The genetic defect leads to the accumulation of HIF-1a protein, activating key carcinogenic pathways, and activated cytokines cause abnormal proliferation of tumor cells and oncogenesis. To date, more than 500 mutations have been registered in VHL. FHL syndrome is characterized by various tumors, including hemangioblastomas of the retina and central nervous system, pheochromocytomas, clear cell renal cell carcinoma, cystic adenoma and others. In the presented clinical description, pheochromocytoma was initially diagnosed in the patient’s mother, and 2 months later in the eldest son. Subsequently, the results of a molecular genetic study made it possible to verify the diagnosis, since in the gene in exon 3 of VHL, a single nucleotide was replaced in the heterozygous state of C.500 G&gt;A, leading to the replacement of the amino acid p.R167Q. Identification of the VHL gene mutation required genetic counseling of all family members, during which a similar mutation was identified in the younger brother. Surgical treatment is the main method of treating FHL syndrome, but advances in genetic research technologies provide new opportunities for the treatment of tumors associated with this syndrome.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>синдром фон Хиппеля-Линдау</kwd><kwd>феохромоцитома</kwd><kwd>артериальная гипертензия</kwd><kwd>генетическое исследование</kwd></kwd-group><kwd-group xml:lang="en"><kwd>von Hippel-Lindau syndrome</kwd><kwd>pheochromocytoma</kwd><kwd>hypertension</kwd><kwd>genetic research</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Сафронова Ю.В., Глухов Д.В., Струкова С.С., и др. Болезнь фон Хиппеля-Линдау // Поволжский онкологический вестник. — 2016. — Т.26 — №4 — С. 72-75.</mixed-citation><mixed-citation xml:lang="en">Safronova Yu.V., Glukhov D.V., Strukova S.S., et al. Hippel-Lindau Disease. 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