HSCR | Hirschsprung‘s disease | 巨结肠 | 研究进展

这个网站介绍得很详细：Hirschsprung Disease，基本的定义、病因、诊断。

  

Hirschsprung disease — integrating basic science and clinical medicine to improve outcomes - 2018年的Nature review，值得好好看，从遗传到发育，再到诊断。但是遗传发育的部分偏少，建立看里面的综述。

Hirschsprung是人名，也就是第一个发现并定义巨结肠的人。

 

Many excellent reviews describe cellular and molecular mechanisms of ENS development17,77–82.

17. Uesaka, T., Young, H. M., Pachnis, V. & Enomoto, H. Development of the intrinsic and extrinsic innervation of the gut. Dev. Biol. 417, 158–167 (2016).

77. Heuckeroth, R. O. & Schafer, K. H. Gene-environment interactions and the enteric nervous system: Neural plasticity and Hirschsprung disease prevention. Dev. Biol. 417, 188–197 (2016).

78. Bondurand, N. & Southard-Smith, E. M. Mouse models of Hirschsprung disease and other developmental disorders of the enteric nervous system: old and new players. Dev. Biol. 417, 139–157 (2016).

79. Avetisyan, M., Schill, E. M. & Heuckeroth, R. O. Building a second brain in the bowel. J. Clin. Invest. 125, 899–907 (2015). 80. Lake, J. I. & Heuckeroth, R. O. Enteric nervous system development: migration, differentiation, and disease. Am. J. Physiol. Gastrointest. Liver Physiol. 305, G1–G24 (2013).

80. Lake, J. I. & Heuckeroth, R. O. Enteric nervous system development: migration, differentiation, and disease. Am. J. Physiol. Gastrointest. Liver Physiol. 305, G1–G24 (2013).

81. Goldstein, A. M., Hofstra, R. M. & Burns, A. J. Building a brain in the gut: development of the enteric nervous system. Clin. Genet. 83, 307–316 (2013).

82. Obermayr, F., Hotta, R., Enomoto, H. & Young, H. M. Development and developmental disorders of the enteric nervous system. Nat. Rev. Gastroenterol. Hepatol. 10, 43–57 (2012).

 

必看

Hirschsprung disease, associated syndromes and genetics: a review