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<article article-type="review-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">vsp</journal-id><journal-title-group><journal-title xml:lang="ru">Вопросы современной педиатрии</journal-title><trans-title-group xml:lang="en"><trans-title>Current Pediatrics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1682-5527</issn><issn pub-type="epub">1682-5535</issn><publisher><publisher-name>Издательство «ПедиатрЪ»</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.15690/vsp.v22i3.2576</article-id><article-id custom-type="elpub" pub-id-type="custom">vsp-3223</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>ОБЗОР ЛИТЕРАТУРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEW</subject></subj-group></article-categories><title-group><article-title>Семейная гиперхолестеринемия у детей. Современное состояние проблемы</article-title><trans-title-group xml:lang="en"><trans-title>Familial Hypercholesterolemia in Children. The Current State of the Problem</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-6662-3548</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Садыкова</surname><given-names>Д. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Sadykova</surname><given-names>Dinara I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Казань</p></bio><bio xml:lang="en"><p>Kazan</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-7327-7025</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Салахова</surname><given-names>К. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Salakhova</surname><given-names>Karina R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Салахова Карина Равилевна - ординатор кафедры госпитальной педиатрии Казанского государственного медицинского университета.</p><p>420012, Казань, ул. Бутлерова, 49</p></bio><bio xml:lang="en"><p>Kazan</p></bio><email xlink:type="simple">karina.salakh@mail.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/0000-0001-5576-5279</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Галимова</surname><given-names>Л. Ф.</given-names></name><name name-style="western" xml:lang="en"><surname>Galimova</surname><given-names>Liliya F.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Казань</p></bio><bio xml:lang="en"><p>Kazan</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/0000-0002-1732-7443</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сластникова</surname><given-names>Е. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Slastnikova</surname><given-names>Eugeniya S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Казань</p></bio><bio xml:lang="en"><p>Kazan</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/0000-0001-6667-7725</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Халиуллина</surname><given-names>Ч. Д.</given-names></name><name name-style="western" xml:lang="en"><surname>Khaliullina</surname><given-names>Chulpan D.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Казань</p></bio><bio xml:lang="en"><p>Kazan</p></bio><xref ref-type="aff" rid="aff-3"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Казанский государственный медицинский университет; Научно-исследовательская лаборатория «Генетика и клиника липидного обмена человека», Казанский федеральный университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Kazan State Medical University; Research Laboratory “Genetics and Clinic of Human Lipid Metabolism”, Kazan Federal University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Казанский государственный медицинский университет; Научно-исследовательская лаборатория «Генетика и клиника липидного обмена человека», Казанский федеральный университет; Детская республиканская клиническая больница</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Kazan State Medical University; Research Laboratory “Genetics and Clinic of Human Lipid Metabolism”, Kazan Federal University; Children’s Republican Clinical HospitalKazan</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Казанский государственный медицинский университет</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Kazan State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>08</day><month>07</month><year>2023</year></pub-date><volume>22</volume><issue>3</issue><fpage>231</fpage><lpage>240</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Садыкова Д.И., Салахова К.Р., Галимова Л.Ф., Сластникова Е.С., Халиуллина Ч.Д., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Садыкова Д.И., Салахова К.Р., Галимова Л.Ф., Сластникова Е.С., Халиуллина Ч.Д.</copyright-holder><copyright-holder xml:lang="en">Sadykova D.I., Salakhova K.R., Galimova L.F., Slastnikova E.S., Khaliullina C.D.</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://vsp.spr-journal.ru/jour/article/view/3223">https://vsp.spr-journal.ru/jour/article/view/3223</self-uri><abstract><p>Сердечно-сосудистые заболевания являются основной причиной инвалидизации и смертности населения по всему миру. Показатель сердечно-сосудистой смертности неуклонно растет даже на фоне масштабных профилактических мероприятий. Самым распространенным генетически обусловленным нарушением липидного обмена, которое служит основной причиной развития и прогрессирования заболеваний системы кровообращения, является семейная гиперхолестеринемия. Во всем мире насчитывается 6,8–8,5 млн детей c этой первичной дислипидемией. Ранняя (в детском возрасте) диагностика семейной гиперхолестеринемии важна для своевременного начала липидснижающей терапии с целью сокращения темпов прогрессирования атеросклероза и риска жизнеугрожающих сердечнососудистых событий. Для повышения эффективности этих мероприятий в экономически развитых странах внедряются новые программы скрининга, изучаются новые биомаркеры болезни, разрабатываются гиполипидемические препараты с новыми механизмами гиполипидемического действия.</p></abstract><trans-abstract xml:lang="en"><p>Cardiovascular diseases are the leading cause of disability and mortality worldwide. Cardiovascular mortality rate is steadily increasing despite the large-scale preventive measures. Familial hypercholesterolemia is the most common genetically determined disorder of lipid metabolism as the major cause of blood circulatory system diseases development and progression. Worldwide, there are 6.8–8.5 million children with this primary dyslipidemia. Early (in childhood) diagnosis of familial hypercholesterolemia is crucial for the timely initiation of lipid-lowering therapy in order to reduce the atherosclerosis progression and the risk of life-threatening cardiovascular events. New screening programs have been implemented, new biomarkers of the disease have been studied, and lipid-lowering drugs with new mechanisms of hypolipidemic action have been developed to increase the efficacy of these activities in economically developed countries.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>дети</kwd><kwd>семейная гиперхолестеринемия</kwd><kwd>диагностика</kwd><kwd>липопротеиды низкой плотности</kwd><kwd>дислипидемия</kwd><kwd>перспективные направления исследований</kwd></kwd-group><kwd-group xml:lang="en"><kwd>children</kwd><kwd>familial hypercholesterolemia</kwd><kwd>diagnostics</kwd><kwd>low-density lipoproteins</kwd><kwd>dyslipidemia</kwd><kwd>advanced research directions</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа выполнена при финансовой поддержке Казанского государственного медицинского университета, грант Международного научного совета для молодых ученых (получатель — Салахова К.Р., 2022)</funding-statement><funding-statement xml:lang="en">The study was carried out with the financial support of Kazan State Medical University, grant from the International research board for young scientists (recipient — K.R. 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