Генетические аспекты патогенеза первичного гиперальдостеронизма и феохромоцитомы

Наиболее частыми эндокринными причинами вторичной артериальной гипертензии (АГ) являются первичный гиперальдостеронизм и феохромоцитома (ФХ). У пациентов с гиперальдостеронизмом установлена частота соматических мутаций при альдостерон-продуцирующих аденомах (АПА), идентифицированы генетические мутации семейных форм заболевания. Исследователи сделали заключение, что область с альдостерон-продуцирующими клеточными кластерами, происходящая из клубочковой зоны, является следствием соматических мутаций и может быть представлена в качестве  предшественника АПА. Наличие аутоантител и хроническая стимуляция ими клубочковой зоны, возможно, объясняет развитие двусторонней гиперплазии и АПА в надпочечниках. Выявление соматических и герминальных мутаций у пациентов с ФХ и параганглиомой способствуют ранней диагностике многих опухолей в рамках синдромальной неоплазии. Внедрение новых генетических исследований в практическую работу будет способствовать ранней диагностике заболеваний надпочечников, протекающих с АГ.

симптоматические артериальные гипертензии, феохромоцитома, первичный гипер- альдостеронизм, альдостерон-продуцирующая аденома, генетические мутации

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