Cơ sở di truyền của bệnh Hirschsprung

Pediatric Surgery International - Tập 25 - Trang 543-558 - 2009
Paul K. H. Tam1, Mercè Garcia-Barceló2
1Division of Paediatric Surgery, Department of Surgery, Queen Mary Hospital, The University of Hong Kong, Hong Kong, People’s Republic of China
2Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, People's Republic of China

Tóm tắt

Bệnh Hirschsprung (HSCR) là một rối loạn phát triển được đặc trưng bởi sự vắng mặt của các tế bào hạch trong ống tiêu hóa dưới. Aganglionosis được cho là do rối loạn của hệ thần kinh ruột (ENS), trong đó các tế bào hạch không thể chi phối ống tiêu hóa dưới trong quá trình phát triển phôi. HSCR là một bệnh phức tạp phát sinh từ sự tương tác của nhiều gen và biểu hiện với tỉ lệ thâm nhập thấp, phụ thuộc vào giới tính và có sự biến đổi trong chiều dài đoạn aganglionic. Độ phức tạp di truyền được quan sát trong HSCR có thể được hiểu khái quát dưới ánh sáng của các sự kiện phân tử và tế bào diễn ra trong quá trình phát triển ENS. Những biến đổi DNA trong bất kỳ gen nào liên quan đến sự phát triển ENS có thể can thiệp vào quá trình chiếm đóng và đại diện cho một nguyên nhân chính của HSCR. Bài đánh giá này sẽ tập trung vào các gen được biết đến là liên quan đến bệnh lý HSCR, cách chúng tương tác, và cách mà các tiến bộ công nghệ đang được sử dụng để khám phá các quá trình bệnh lý cơ bản của căn bệnh này.

Từ khóa

#bệnh Hirschsprung #rối loạn phát triển #tế bào hạch #hệ thần kinh ruột #gen #tính thâm nhập #biến đổi DNA

Tài liệu tham khảo

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