Moore Samuel W
Division of Paediatric Surgery, University of Stellenbosch, Tygerberg, South Africa.
Semin Pediatr Surg. 2012 Nov;21(4):302-9. doi: 10.1053/j.sempedsurg.2012.07.004.
Total colonic aganglionosis (TCA) is a relatively uncommon form of Hirschsprung disease (HSCR), occurring in approximately 2%-13% of cases. It can probably be classified as TCA (defined as aganglionosis extending from the anus to at least the ileocecal valve, but not >50 cm proximal to the ileocecal valve) and total colonic and small bowel aganglionosis, which may involve a very long segment of aganglionosis. It is not yet clear whether TCA merely represents a long form of HSCR or a different expression of the disease. There are many differences between TCA and other forms of HSCR, which require explanation if its ubiquitous clinical features are to be understood. Clinically, TCA appears to represent a different spectrum of disease in terms of presentation and difficulties that may be experienced in diagnosis, suggesting a different pathophysiology from the more common forms of HSCR. There is also some evidence suggesting that instead of being purely congenital, it may represent certain different pathophysiologic mechanisms. This study, in addition to reviewing current understanding and differences between TCA and the more frequently encountered rectosigmoid (or short-segment) expression, correlates them with what is currently known about the genetic and molecular biological background. Moreover, it reviews current outcomes to find consensus on management.
全结肠无神经节症（TCA）是先天性巨结肠症（HSCR）中一种相对罕见的类型，约占病例的2%-13%。它可能可分为TCA（定义为无神经节症从肛门延伸至至少回盲瓣，但不超过回盲瓣近端50 cm）以及全结肠和小肠无神经节症，后者可能涉及很长一段无神经节症。目前尚不清楚TCA仅仅是HSCR的一种长型表现还是该疾病的一种不同表现形式。TCA与其他形式的HSCR之间存在许多差异，若要理解其普遍的临床特征，这些差异需要解释。临床上，TCA在表现和诊断可能遇到的困难方面似乎代表着不同的疾病谱，提示其病理生理学与更常见形式的HSCR不同。也有一些证据表明，它可能并非纯粹先天性的，而是代表某些不同的病理生理机制。本研究除了回顾目前对TCA与更常见的直肠乙状结肠（或短段）表现之间的认识及差异外，还将它们与目前已知的遗传和分子生物学背景相关联。此外，它还回顾了目前的治疗结果以寻求治疗方面的共识。
