medalphabetМедицинский алфавитMedical alphabet2078-56312949-2807ООО «Альфмед»10.33667/2078-5631-2025-6-25-28medalphabet-4339Research ArticleСтатьиКлиническая гетерогенность и некоторые клинико-генетические варианты воспалительных заболеваний кишечникаClinical heterogeneity and some clinical and genetic variants of inflammatory bowel diseaseshttps://orcid.org/0009-0009-9562-3529ПершкоА. М.PershkoA. M.

Першко Анатолий Михайлович, д. м. н., профессор, врач-гастроэнтеролог, доцент 2 кафедры (терапии усовершенствования врачей),

 Санкт-Петербург.

Pershko Anatoliy M., DM Sci (habil.), gastroenterologist, associate professor at the 2nd Dept of Advanced Medical Training of Physicians,

St. Petersburg.

ampershko@gmail.comhttps://orcid.org/0000-0002-0071-2791ИсмаиловаГ. И.IsmailovaG. I.

Исмаилова Гюнай Исмаиловна, клинический ординатор 2-го курса по специальности «гастроэнтерология»,

Санкт-Петербург.

Ismailova Gunay I., 2nd year Clinical Resident in the Specialty Gastroenterology,

St. Petersburg.

ФГБВОУ ВО «Военно-медицинская академия им. С. М. Кирова» Министерства обороны РФРоссияPhysicians Military Medical Academy named after S. M. KirovRussian Federation20252605202506«Гастроэнтерология и диетология» (1)2528Copyright © Першко А.М., Исмаилова Г.И., 20252025Першко А.М., Исмаилова Г.И.Pershko A.M., Ismailova G.I.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.med-alphabet.com/jour/article/view/4339

Изучение воспалительных заболеваний кишечника характеризуется динамичностью и новыми открытиями. Стремление к персонализированной терапии этой категории пациентов настоятельно диктует необходимость расшифровки генетической архитектуры язвенного колита и болезни Крона. Завершение проекта «гГеном человека» ознаменовалось открытием более 240 генетических полиморфизмов при воспалительных заболеваниях кишечника. Сопоставление клинических и генетических признаков подтвердило существование различных клинико-генетических фенотипов язвенного колита и болезни Крона, множества вариантов риска и позволило пролить свет на ключевые патогенетические механизмы. К ним относятся механизмы поломок в работе врожденного иммунитета и процессов аутофагии, нарушения дифференцировки лимфоцитов и хемотаксиса. Внедрение в клиническую практику этих положений сможет не только улучшить диагностический процесс, но и в значительной мере будет способствовать проведению персонифицированной терапии.

The study of inflammatory bowel diseases is characterized by dynamism and new discoveries. The desire for personalized therapy for this category of patients urgently dictates the need to decipher the genetic architecture of ulcerative colitis and Crohn's disease. The completion of the human genome project was marked by the discovery of more than 240 genetic polymorphisms in inflammatory bowel diseases. Comparison of clinical and genetic features confirmed the existence of various clinical and genetic phenotypes of ulcerative colitis and Crohn's disease, many risk options and shed light on key pathogenetic mechanisms. These include mechanisms of breakdowns in the innate immune system and autophagy processes, impaired lymphocyte differentiation and chemotaxis. The introduction of these provisions into clinical practice will not only improve the diagnostic process, but will also significantly contribute to personalized therapy.

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