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Псевдогипопаратиреоз

https://doi.org/10.14341/probl201561347-56

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Аннотация

Псевдогипопаратиреоз (ПГП) - редкое генетическое заболевание, проявляющееся нарушением фосфорно-кальциевого обмена, обусловленным резистентностью к паратгормону (ПТГ). Клинический вариант ПГП зависит не только от резистентности к ПТГ; возможен фенотип, обусловленный мультигормональной резистентностью. Резистентность к ПТГ связана с нарушением активности α-субъединицы G-белка вследствие дефекта гена GNAS и эпигенетических сдвигов. Механизм развития этого редкого (орфанного) заболевания очень сложен и до конца не изучен. В обзоре отражены современные представления об этиологии, патогенезе и клиническом разнообразии ПГП.

Об авторах

Н В Маказан
ФГБУ «Эндокринологический научный центр»


Е М Орлова
ФГБУ «Эндокринологический научный центр»


М А Карева
ФГБУ «Эндокринологический научный центр»


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Для цитирования:


Маказан Н.В., Орлова Е.М., Карева М.А. Псевдогипопаратиреоз. Проблемы Эндокринологии. 2015;61(3):47-56. https://doi.org/10.14341/probl201561347-56

For citation:


Makazan N.V., Orlova E.M., Kareva M.A. Pseudo-hypothyroidism. Problems of Endocrinology. 2015;61(3):47-56. (In Russ.) https://doi.org/10.14341/probl201561347-56

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