Синдромы с инсулинорезистентностью: инсулинорезистентность типа А, лепречаунизм, синдром Рабсона-Мендельхалла и липодистрофия

Ключевыми особенностями всех синдромов с инсулинорезистентностью являются акантокератодермия (черный акантоз), избыток андрогенов и значительно повышенные концентрации инсулина в отсутствие ожирения. Чем тяжелее инсулинорезистентность и чем раньше ее начало, тем более вероятен сахарный диабет (С).

Пациенты с синдромом Донахью (называемом еще лепречаунизмом) имеют тяжелую внутриутробную задержку в росте, полное отсутствие подкожно-жировой клетчатки при рождении, лицевой дисморфизм («эльфоподобное лицо» с большими шаровидными глазами, оттопыренными ушами и микрогнатией), вздутый живот и нарушение гомеостаза глюкозы характеризующееся гипогликемией натощак и постпрандиальной гипергликемией. Пациенты погибают обычно в первые 2 года жизни.

Пациенты с синдромом Рабсона-Менденхолла имеют дисплазию десен и зубов, быстрый рост ногтей и гирсутизм. У пациентов развивается прогрессирующий диабет с кетоацидозом, большинство доживают до подросткового возраста.

При инсулиновой резистентности типа А наблюдается преимущественно поражение лиц женского пола подросткового возраста, наблюдается тяжелая инсулинорезистентность, проявления гиперандрогении и acanthosis nigricans. Девушки могут иметь разную степень гиперандрогении – от мягкого гирсутизма до тяжелой вирилизации. Диабет или нарушенная толерантность к глюкозе является одним из наиболее поздних проявлений синдрома и может быть компенсирован метформином.

Тяжелая инсулинорезистентность с трудом поддается лечению; у большинства пациентов с таким сахарным диабетом плохой гликемический контроль и часто развиваются осложнения (С).

В число применяемых подходов входит применение препаратов, улучшающих чувствительность к инсулину, таких как метформин, но когда инсулинорезистентность имеет особенно тяжелую форму, степень их воздействия ограничена. Главным направлением лечения остается инсулинотерапия; обычно требуется использование инсулина (500 Ед) и инсулиновых помп (Е). В случае частичной липодистрофии положительный эффект может быть получен от терапии метформином, и на ранних стадиях можно обойтись без инсулина (С). При генерализованной липодистрофии может развиться тяжелая декомпенсация диабета, поэтому попытки лечения бигуанидами могут предприниматься только в научно-исследовательских учреждениях

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