Генетическая канва герменевтики феномена сочетания болезней человека
https://doi.org/10.18699/VJGB-23-03
Аннотация
Структура заболеваний у человека неоднородна, характеризуется различными вариантами сочетаний болезней, включая сопутствующие патологии, связанные общим патогенетическим механизмом, а также болезни, редко проявляющиеся совместно на фенотипическом уровне. В последнее время отмечается рост интереса к изучению закономерностей развития не отдельных болезней, а целых семейств, связанных общими патогенетическими механизмами и общими генами, вовлеченными в их развитие. В результате установлен существенный генетический компонент, контролирующий образование конгломератов болезней сложным образом, через функционально взаимодействующие модули отдельных генов в генных сетях. Аналитический обзор исследований по проблематике разных аспектов сочетания болезней и является целью настоящей работы. В обзоре использована метафора герменевтического круга для познания структуры закономерных связей между болезнями, приведены концептуальные рамки, связанные с множественностью заболеваний у индивида. Рассмотрена существующая терминология применительно к ним, среди которых мультиморбидность, полипатии, коморбидность, конгломераты, семейства, «вторые болезни», синтропия и другие. Приведены ключевые результаты, чрезвычайно полезные, прежде всего, для описания генетической архитектуры болезней многофакторной природы. Обобщения по проблеме исследования феномена сочетания болезней позволяют приблизиться к систематизации и естественной классификации болезней. С точки зрения практического здравоохранения описание феномена сочетания болезней имеет решающее значение для расширения интерпретационного горизонта клинициста и выхода за пределы узких, ориентированных на конкретную болезнь терапевтических решений.
Об авторах
Е. Ю. Брагина
Научно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наук; Сибирский государственный медицинский университет Министерства здравоохранения Российской Федерации
Россия
Россия
Томск
В. П. Пузырёв
Научно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наук; Сибирский государственный медицинский университет Министерства здравоохранения Российской Федерации
Россия
Россия
Томск
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