先天性巨結腸

先天性巨結腸（Hirschsprung disease，簡稱HSCR）又稱腸無神經節細胞症，是引起兒童腸梗阻最常見的消化系統先天發育異常性疾病^[1]。它的發病機制主要涉及胚胎發育期腸神經嵴細胞的增殖、遷移、分化障礙^[2]。

活產兒的患病率在不同種族之間存在明顯差異，歐洲、非洲、亞洲裔分別為1.5/10000、2.1/10000、2.8/10000^[1]。該病的主要病理改變是遠端腸組織中肌間神經叢和黏膜下神經叢中的神經節細胞缺失^[3]。

除了少數家族性患者外，大多數HSCR以散發形式存在^[4][5]。

分型

根據腸段受累的範圍，HSCR分為以下四種類型^[6]：

• 短段型（short-segment HSCR，S-HSCR）
• 長段型（long-segment HSCR，L-HSCR）
• 全結腸型（total colonic aganglionosis，TCA）
• 全腸型（total colonic and small-colon aganglionosis，TCSA）

參考文獻

1. Gao, Ya; Jiang, Qian. Research progress, problems, and prospects in the genetic study of Hirschsprung disease. Chinese Science Bulletin. 2023-09-01. doi:10.1360/TB-2023-0716.
2. Benisch, Barry M. To the editor. Human Pathology. 1975-01, 6 (1): 128. doi:10.1016/S0046-8177(75)80115-8.
3. Whitehouse, Francis R. MYENTERIC PLEXUS IN CONGENITAL MEGACOLON: Study of Eleven Cases. Archives of Internal Medicine. 1948-07-01, 82 (1): 75. doi:10.1001/archinte.1948.00220250085005.
4. Amiel, J; Sproat-Emison, E; Garcia-Barcelo, M; Lantieri, F; Burzynski, G; Borrego, S; Pelet, A; Arnold, S; Miao, X; Griseri, P; Brooks, A S; Antinolo, G; de Pontual, L; Clement-Ziza, M; Munnich, A; Kashuk, C; West, K; Wong, K K-Y; Lyonnet, S; Chakravarti, A; Tam, P K-H; Ceccherini, I; Hofstra, R M W; Fernandez, R. Hirschsprung disease, associated syndromes and genetics: a review. Journal of Medical Genetics. 2007-10-26, 45 (1): 1–14. doi:10.1136/jmg.2007.053959.
5. Badner, Judith A.; Chakravarti, Aravinda. Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene. American Journal of Medical Genetics. 1990-01, 35 (1): 100–104. doi:10.1002/ajmg.1320350119.
6. Karim, Anwarul; Tang, Clara Sze-Man; Tam, Paul Kwong-Hang. The Emerging Genetic Landscape of Hirschsprung Disease and Its Potential Clinical Applications. Frontiers in Pediatrics. 2021-08-05, 9. doi:10.3389/fped.2021.638093.