Молекулярно-генетические основы болезни Иценко–Кушинга у детей и перспективы таргетной терапии

Болезнь Иценко-Кушинга (БИК) — редкое мультисистемное заболевание, причиной которого является АКТГ-секретирующая аденома гипофиза (кортикотропинома), обуславливающая гиперсекрецию кортизола пучковой зоной коры надпочечников.
БИК у детей может быть обусловлена как соматическими, так и герминативными мутациями, последние обуславливают развитие синдромов множественных эндокринных опухолей. При отсутствии лечения БИК приводит к тяжелой инвалидизации и смертельно-опасным осложнениям. В настоящее время первоочередным методом лечения является хирургическое удаление аденомы, в результате которого могут развиться пери- и постоперационные осложнения и сохраняется возможность повторных вмешательств. В то же время результаты исследований молекулярно-генетических механизмов формирования кортикотропином, от нарушения регуляции клеточного цикла и апоптоза до нарушений регуляции гипоталамо-­гипофизарной-надпочечниковой оси, открывают возможности таргетной лекарственной терапии при БИК. Возможность наличия множественных эндокринных опухолей при БИК и перспективы таргетной терапии делают понимание причин и механизмов образования кортикотропином важным аспектом квалификации практикующих детских эндокринологов.
В настоящем обзоре отображены современные представления о молекулярно-генетических аспектах формирования кортикотропином и возможностях их лекарственной терапии.

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