Неклассическая манифестация синдрома множественных эндокринных неоплазий 1 типа

Синдром множественных эндокринных неоплазий 1 типа (МЭН-1) — орфанное заболевание, обусловленное метахронным развитием образований эндокринных и неэндокринных органов. Первым наиболее частым проявлением заболевания является первичный гиперпаратиреоз, однако также возможна манифестация с других компонентов. Ввиду широкой вариабельности клинического течения настороженность в отношении данной патологии должна проявляться врачами разных специальностей.

На примере представленного клинического случая неклассической манифестации синдрома МЭН-1 освещаются трудности установления диагноза, тактика комплексного обследования и лечения основных компонентов синдрома. Своевременное проведение лабораторно-инструментальной и генетической диагностики играет важную роль в профилактике осложнений заболевания, повышении качества жизни и улучшении прогноза пациентов.

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