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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">gnck</journal-id><journal-title-group><journal-title xml:lang="ru">Колопроктология</journal-title><trans-title-group xml:lang="en"><trans-title>Koloproktologia</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7556</issn><issn pub-type="epub">2686-7303</issn><publisher><publisher-name>Russian Association of Coloproctology</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.33878/2073-7556-2022-21-2-114-120</article-id><article-id custom-type="elpub" pub-id-type="custom">gnck-1689</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>КЛИНИЧЕСКИЕ НАБЛЮДЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>CASE REPORT</subject></subj-group></article-categories><title-group><article-title>Врожденная гиперплазия пигментного эпителия сетчатки у пациента с семейный аденоматозным полипозом толстой кишки (клинический случай)</article-title><trans-title-group xml:lang="en"><trans-title>Congenital hypertrophy of the retinal pigment epithelium in the patients with familial adenomatous polyposis colon (case report)</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-6399-2340</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Крячко</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kryachko</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Федеральное государственное бюджетное образовательное учреждение высшего образования «Кубанский государственный медицинский университет»</p><p>350063</p><p>ул. им. Митрофана Седина, д. 4</p><p>Государственное бюджетное учреждение здравоохранения «Краевая клиническая больница № 2»</p><p>350012</p><p>ул. Красных Партизан, д. 6/2</p><p>Краснодар</p></bio><bio xml:lang="en"><p>Andrei A. Kryachko</p><p>Federal State Budgetary Educational Institution of Higher Education “Kuban State Medical University”</p><p>350063</p><p>Mitrofan Sedin St., 4</p><p>State budgetary healthcare institution “Regional Clinical Hospital No. 2”</p><p>350012</p><p>Krasnykh Partizan St., 6/2</p><p>Krasnodar</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/0000-0003-1192-5239</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Чугузов</surname><given-names>К. Д.</given-names></name><name name-style="western" xml:lang="en"><surname>Chuguzov</surname><given-names>K. D.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Константин Дмитриевич Чугузов</p><p>Федеральное государственное бюджетное образовательное учреждение высшего образования «Кубанский государственный медицинский университет»</p><p>350063</p><p>ул. им. Митрофана Седина, д. 4</p><p>Государственное бюджетное учреждение здравоохранения «Краевая клиническая больница № 2»</p><p>350012</p><p>ул. Красных Партизан, д. 6/2</p><p>ул. Заполярная, д. 35/10, кв. 11</p><p>тел.: +7 (953) 071-77-82</p><p>Краснодар</p></bio><bio xml:lang="en"><p>Konstantin D. Chuguzov</p><p>Federal State Budgetary Educational Institution of Higher Education “Kuban State Medical University”</p><p>350063</p><p>Mitrofan Sedin St., 4</p><p>State budgetary healthcare institution “Regional Clinical Hospital No. 2”</p><p>350012</p><p>Krasnykh Partizan St., 6/2</p><p>Zapolyarnaya st., 35/10-11</p><p>tel.: +7 (953) 071-77-82</p><p>Krasnodar</p></bio><email xlink:type="simple">fugazii1993@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2885-7674</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Дурлештер</surname><given-names>В. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Durleshter</surname><given-names>V. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Федеральное государственное бюджетное образовательное учреждение высшего образования «Кубанский государственный медицинский университет»</p><p>350063</p><p>ул. им. Митрофана Седина, д. 4</p><p>Государственное бюджетное учреждение здравоохранения «Краевая клиническая больница № 2»</p><p>350012</p><p>ул. Красных Партизан, д. 6/2</p><p>Краснодар</p></bio><bio xml:lang="en"><p>Vladimir M. Durleshter</p><p>Federal State Budgetary Educational Institution of Higher Education “Kuban State Medical University”</p><p>350063</p><p>Mitrofan Sedin St., 4</p><p>State budgetary healthcare institution “Regional Clinical Hospital No. 2”</p><p>350012</p><p>Krasnykh Partizan St., 6/2</p><p>Krasnodar</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/0000-0002-9411-7052</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Карагодина</surname><given-names>П. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Karagodina</surname><given-names>P. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>350012</p><p>ул. Красных Партизан, д. 6</p><p>Краснодар</p></bio><bio xml:lang="en"><p>Polina A. Karagodina</p><p>350012</p><p>Krasnyh Partizan st., 6</p><p>Krasnodar</p></bio><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Министерство здравоохранения Российской Федерации; Министерства здравоохранения Краснодарского края</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Ministry of Health of the Russian Federation; Ministry of Health of the Krasnodar Territory</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Федеральное государственное автономное учреждение «Национальный медицинский исследовательский&#13;
центр «Межотраслевой научно-технический комплекс” Краснодарский филиал</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal State Autonomous Institution “National Medical Research Center“ Intersectoral Scientific and Technical Complex” Krasnodar branch</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2022</year></pub-date><pub-date pub-type="epub"><day>21</day><month>06</month><year>2022</year></pub-date><volume>21</volume><issue>2</issue><fpage>114</fpage><lpage>120</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Крячко А.А., Чугузов К.Д., Дурлештер В.М., Карагодина П.А., 2022</copyright-statement><copyright-year>2022</copyright-year><copyright-holder xml:lang="ru">Крячко А.А., Чугузов К.Д., Дурлештер В.М., Карагодина П.А.</copyright-holder><copyright-holder xml:lang="en">Kryachko A.A., Chuguzov K.D., Durleshter V.M., Karagodina P.A.</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.ruproctology.com/jour/article/view/1689">https://www.ruproctology.com/jour/article/view/1689</self-uri><abstract><sec><title>   Введение</title><p>   Введение: семейный аденоматозный полипоз толстой кишки - одно из самых трудно диагностируемых заболеваний во врачебной практике, на раннем этапе, множественные аденомы в толстой кишке клинически чаще всего никак не проявляются, а на более поздней стадии неизбежно трансформируются в колоректальный рак. Скудная клиническая симптоматика редко позволяет установить диагноз до появления малигнизации, поэтому спасательным кругом в диагностике данной патологии могут являться ее внекишечные проявления. Врожденная гипертрофия пигментного эпителия сетчатки – это доброкачественная опухоль, формирующаяся из пигментного эпителия сетчатки и может встречаться как в изолированной форме, так и у пациентов с семейным аденоматозным полипозом толстой кишки. К сожалению, в русскоязычной клинической литературе практически нет научных трудов, посвященной данной проблеме, и соответственно научные работы в этом направлении могут помочь врачу в ранней диагностике и своевременном лечении пациентов с полипозом толстой кишки.</p></sec><sec><title>   Пациенты и методы</title><p>   Пациенты и методы: нами описан клинический случай пациента П., 35 лет, который в плановом порядке поступил в хирургическое отделение № 3 ГБУЗ ККБ 2 с диагнозом семейный аденоматозный полипоз толстой кишки. Во время дообследования выявлены множественные опухолевидные поражения глаз по типу гиперплазии пигментного эпителия сетчатки. Из анамнеза выяснено, что в 2017 году пациент проходил плановый осмотр у офтальмолога, где раннее патологическое состояние было выявлено впервые, но на это клиническое проявление внимание врача не было обращено, и пациент в дальнейшем не было направлен на консультацию к колопроктологу с подозрением на семейный аденоматозный полипоз толстой кишки.</p></sec><sec><title>   Заключение</title><p>   Заключение: врожденная гипертрофия пигментного эпителия сетчатки – одно из самых частых внекишечных проявлений семейного аденоматозного полипоза толстой кишки, частота встречаемости около 90 %. При наличии такой патологии у пациентов – их необходимо направлять на консультацию к колопроктологу для дообследования с целью раннего выявления полипоза и, как следствие, вовремя начатое лечение в необходимом объеме приведет к профилактике возникновения колоректального рака.</p></sec></abstract><trans-abstract xml:lang="en"><p>   Familial adenomatous polyposis is one of the most difficult to diagnose diseases in medical practice, at an early stage, multiple colorectal adenomas are clinically most often not manifested in any way, and at a later stage they inevitably transform into colorectal cancer. Poor clinical manifestation rarely make it possible to establish a diagnosis before the onset of malignancy, so extraintestinal symptoms can be a lifeline in the diagnosis of this disease. Congenital retinal pigment epithelium hypertrophy is a benign tumor that develops from the retinal pigment epithelium and can occur both in an isolated form and in patients with familial adenomatous polyposis of the colon. Unfortunately, in the Russian-language clinical literature there are practically no scientific papers devoted to this problem. Clinical case of patient P., 35 years old, who was routinely admitted to the surgical unit with a diagnosis of familial adenomatous polyposis is presented. During the additional examination, multiple tumor-like lesions of the eyes were revealed according to the type of hypertrophy of the retinal pigment epithelium. From the anamnesis, it was found out that in 2017 the patient underwent a check-up by an ophthalmologist, where an early pathological condition was detected for the first time, but the doctor’s attention was not paid to this clinical manifestation, and the patient was not subsequently referred for a consultation with a coloproctologist with suspicion of familial adenomatous polyposis.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>полипоз толстой кишки</kwd><kwd>врожденная гипертрофия пигментного эпителия сетчатки</kwd><kwd>рак толстой кишки</kwd><kwd>мутация гена APC</kwd><kwd>MutYH</kwd></kwd-group><kwd-group xml:lang="en"><kwd>adenomatous polyposis colon</kwd><kwd>congenital hypertrophy of the retinal pigment epithelium</kwd><kwd>CHRPE</kwd><kwd>colon cancer</kwd><kwd>mutations of gene APC</kwd><kwd>MutYH</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">Peyman Dinarvand, Elizabeth P. 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