Наследствен ангиоедем

  • Маргарита Ганева
Keywords: наследствен ангиоедем, С1-инхибитор

Abstract

Наследственият ангиоедем (НАЕ) е заболяване, характеризиращо се с рецидивиращи пристъпи на ангиоедем, засягащи най-често кожата или мукозата на горни дихателни пътища или гастроинтестиналния тракт. Унаследява се автозомно-доминантно и е резултат от мутация в гена SERPING1, кодиращ С1-инхибитора. Отокът, който се наблюдава при НАЕ, е резултат от ексцесивна продукция на брадикинин, потентен медиатор на вазодилатация. Два са основните типа НАЕ – тип I с дефицит на С1-инхибитор (съставляващ около 85% от случаите) и тип II с дисфункция на С1-инхибитор (наблюдаван в около 15% от случаите). Съществува и форма на НАЕ с нормални нива и функция на С1-инхибитор.

Диагностицирането на НАЕ изисква наличие на ниско ниво на С4 фракция на комплемента плюс намалена концентрация и/или функция на С1-инхибитора. Съществуват три групи лекарства за НАЕ – такива за терапия при нужда, такива за краткосрочна профилактика и такива за дългосрочна профилактика на пристъпите. Изключителният напредък в терапията на НАЕ предоставя все по-добро качество на живот на пациентите.

References

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Published
2023-03-24
How to Cite
1.
Ганева М. Наследствен ангиоедем. Редки болести и лекарства сираци [Internet]. 2023Mar.24 [cited 2024Jun.12];13(3-4):5-. Available from: https://journal.raredis.org/index.php/RBLS/article/view/166
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