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CAPS — sinh bệnh học, biểu hiện và điều trị một bệnh tự miễn
Tóm tắt
Hội chứng chu kỳ liên quan đến cryopyrin (CAPS) là một phổ mức độ nghiêm trọng của các bệnh hiếm gặp. CAPS bao gồm ba tình trạng trước đây được mô tả như hội chứng tự viêm lạnh di truyền (FCAS), hội chứng Muckle-Wells (MWS), và rối loạn viêm đa hệ khởi phát sơ sinh (NOMID), cũng được gọi là hội chứng thần kinh, da và khớp trẻ em mãn tính (CINCA). Biểu hiện lâm sàng của CAPS đặc trưng bởi viêm toàn thân. Các triệu chứng chung là mệt mỏi và sốt. Các biểu hiện tại chỗ ảnh hưởng đến nhiều mô như da, khớp, cơ bắp, mắt và hệ thần kinh trung ương. Những đặc điểm lâm sàng khác biệt là đặc trưng cho mỗi kiểu con của bệnh này. Ở FCAS, các triệu chứng là mề đay do lạnh và sốt, trong MWS thì có bệnh amyloidosis toàn thân và mất thính lực, còn trong NOMID/CINCA có viêm hệ thần kinh trung ương và biến dạng xương. CAPS được gây ra bởi sự đột biến chức năng tăng cường ở dạng đơn lẻ dị hợp tử trong gen NLRP3 mã hóa cho protein cryopyrin. Cryopyrin dẫn dắt sự hình thành một thể tích NLRP3 inflammasome, điều chỉnh sự kích hoạt và cắt khối của caspase-1, cắt các cytokine gây viêm, IL-1β và IL-18. IL-1β đóng vai trò trọng yếu trong việc khởi phát viêm trong CAPS. Điều này đã được xác nhận bởi việc áp dụng các tác nhân chặn IL-1, dẫn đến không những hồi phục nhanh chóng và bền vững các triệu chứng hàng ngày mà còn đến một mức độ nào đó của các di chứng lâu dài của căn bệnh. Để ngăn ngừa tổn thương cơ quan do CAPS gây ra, việc chẩn đoán sớm và khởi động nhanh chóng việc điều trị hiệu quả là điều vô cùng cần thiết.
Từ khóa
#Hội chứng chu kỳ liên quan đến cryopyrin #CAPS #viêm tự miễn #bệnh hiếm gặp #gen NLRP3 #cytokine gây viêmTài liệu tham khảo
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