Случай тяжелого неонатального гиперпаратиреоза, обусловленный дефектом кальциевого рецептора

Описан первый случай тяжелого неонатального гиперпаратиреоза в российской популяции, получивший молекулярно-генетическое подтверждение. Особенностью представленного пациента являются очень высокий уровень кальция и паратгормона (ПТГ), наличие характерных для гиперпаратиреоза клинических симптомов в отсутствие поражения длинных трубчатых костей. Удаление всех околощитовидных желез привело к нормализации лабораторных показателей и состояния пациента. При исследовании гена CASR диагноз тяжелого неонатального гиперпаратиреоза был подтвержден у пациента, а у родителей ребенка выявлена семейная гипокальциурическая гиперкальциемия.

неонатальный гиперпаратиреоз, кальцийсенсорный рецептор, ген CASR

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