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Проблемы Эндокринологии

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Х-сцепленные иммунная дисрегуляция, полиэндокринопатия и энтеропатия (IPEX-синдром): описание клинического случая и краткий обзор литературы

https://doi.org/10.14341/probl201460529-33

Аннотация

IPEX-синдром (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked) является одной из редких наследственных Х-сцепленных форм неонатального сахарного диабета, ассоциированного с мутациями в гене FOXP3. Заболевание характеризуется сочетанием полиэндокринопатии (чаще неонатальный сахарный диабет) с энтеропатией и иммунной дисрегуляцией. Прогноз в большинстве случаев неблагоприятный. Представлено первое в отечественной литературе описание генетически подтвержденного клинического случая IPEX-синдрома.

Об авторах

Ю В Тихонович
ФГБУ «Эндокринологический научный центр» Минздрава России, Москва
Россия


Е Е Петряйкина
ГБУЗ "Морозовская детская городская клиническая больница" Департамента здравоохранения Москвы
Россия


И Г Рыбкина
ГБУЗ "Морозовская детская городская клиническая больница" Департамента здравоохранения Москвы
Россия


И В Гаряева
ГБУЗ "Морозовская детская городская клиническая больница" Департамента здравоохранения Москвы
Россия


А Н Тюльпаков
ФГБУ «Эндокринологический научный центр» Минздрава России, Москва
Россия


Список литературы

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Рецензия

Для цитирования:


Тихонович Ю.В., Петряйкина Е.Е., Рыбкина И.Г., Гаряева И.В., Тюльпаков А.Н. Х-сцепленные иммунная дисрегуляция, полиэндокринопатия и энтеропатия (IPEX-синдром): описание клинического случая и краткий обзор литературы. Проблемы Эндокринологии. 2014;60(5):29-33. https://doi.org/10.14341/probl201460529-33

For citation:


Tikhonovich Yu.V., Petryaikina E.E., Rybkina I.G., Garyaeva I.V., Tyul’pakov A.N. X-linked immune dysregulation, polyendocrinopathy and enteropathy (IPEX syndrome): the description of a clinical case and a short literature review. Problems of Endocrinology. 2014;60(5):29-33. (In Russ.) https://doi.org/10.14341/probl201460529-33

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