Nội dung được dịch bởi AI, chỉ mang tính chất tham khảo
Đánh giá hệ thống tài liệu và phân tích tổng hợp về dịch tễ học của bệnh acid propionic
Tóm tắt
Bệnh acid propionic (PA, OMIM #606054) là một rối loạn chuyển hóa di truyền nghiêm trọng, mang tính chất đe dọa đến tính mạng, do sự thiếu hụt của enzym propionyl-coenzyme A (CoA) carboxylase (EC 6.4.1.3) tại ty thể. Mục tiêu chính của nghiên cứu này là tiến hành đánh giá hệ thống tài liệu và phân tích tổng hợp về dịch tễ học của bệnh PA. Tìm kiếm tài liệu được thực hiện trên các cơ sở dữ liệu Medline, Embase, Cochrane Database of Systematic Reviews, CRD Database, Academic Search Complete, CINAHL và PROSPERO. Các trang web của các tổ chức bệnh hiếm cũng được tìm kiếm để tìm kiếm các nghiên cứu đủ tiêu chuẩn. Trong số 2338 hồ sơ được xác định, 188 bài báo đã được đánh giá mức độ đủ tiêu chuẩn ở toàn văn, 43 bài báo báo cáo về dịch tễ học của bệnh, và 31 nghiên cứu đã được đưa vào tổng hợp định lượng. Do tính hiếm của bệnh PA, các nghiên cứu theo dõi dân số rộng rãi không có sẵn. Tuy nhiên, việc triển khai các chương trình sàng lọc sơ sinh đã cho phép ước tính dữ liệu tỷ lệ sinh của bệnh PA qua nhiều khu vực địa lý khác nhau. Các ước tính tổng hợp cho thấy tỷ lệ phát hiện lần lượt là 0.29; 0.33; 0.33 và 4.24 tại các khu vực Châu Á-Thái Bình Dương, Châu Âu, Bắc Mỹ và Trung Đông và Bắc Phi (MENA). Đánh giá tài liệu và phân tích tổng hợp của chúng tôi xác nhận rằng PA là một rối loạn cực kỳ hiếm, với các tỷ lệ phát hiện tương tự giữa tất cả các khu vực, ngoại trừ khu vực MENA, nơi bệnh này, tương tự như các rối loạn chuyển hóa di truyền khác, có tần suất cao hơn.
Từ khóa
#bệnh acid propionic #rối loạn chuyển hóa di truyền #dịch tễ học #sàng lọc sơ sinh #nghiên cứu hệ thốngTài liệu tham khảo
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