ДИАГНОСТИКА И ЛЕЧЕНИЕ МОНОГЕННЫХ ФОРМ САХАРНОГО ДИАБЕТА: В ФОКУСЕ MODY-ДИАБЕТ

Диабет зрелого возраста у молодых (MODY) является наиболее распространенной формой моногенного диабета, возникающего в результате мутации одного гена. Он характеризуется легкой гипергликемией, аутосомно-доминантным типом наследования, ранним началом диабета (<25 лет), сохранением эндогенной секреции инсулина, а также наличием подтипов, различающихся клинически и генетически. В настоящее время идентифицировано 14 подтипов MODY, отличающихся частотой возникновения, клиническими особенностями, тяжестью диабета и связанными с ним осложнениями, а также ответом на лечение. Этот тип диабета, зачастую некорректно диагностируется как сахарный диабет типа 1 или типа 2. Причина тому — клиническое сходство с другими типами диабета, высокая стоимость и ограниченный доступ к генетическому тестированию, а также недостаточная осведомлённость клиницистов. В результате несвоевременной диагностики пациенты не получают надлежащего эффективного лечения, отличного от терапии диабета 1 и 2 типов. Цель данного обзора — повысить осведомлённость клиницистов о MODY-диабете, акцентировав внимание на обновленной информации о методах диагностики и лечения 14 подтипов.

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