Kapur Raj P
Department of Laboratories, Seattle Children's Hospital, University of Washington, Seattle, Washington 98115, USA.
Semin Pediatr Surg. 2009 Nov;18(4):212-23. doi: 10.1053/j.sempedsurg.2009.07.003.
Diagnosis and management of Hirschsprung's disease (HSCR) requires understanding of the malformation's anatomic features and multigenic nature. Rectal biopsies, intraoperative frozen sections, and resection specimens provide invaluable information. Extraction of these data requires thoughtful biopsy technique, adequate histologic sections, histochemistry, and collaboration of surgeon and pathologist. Critical consideration of transition zone anatomy and published studies of "transition zone pull through" indicate that more research is needed to determine how much ganglionic bowel should be resected from HSCR patients. Many HSCR-susceptibility genes have been identified, but mutational analysis has limited practical value unless family history or clinical findings suggest syndromic HSCR.
先天性巨结肠（HSCR）的诊断与治疗需要了解该畸形的解剖特征和多基因性质。直肠活检、术中冰冻切片及切除标本可提供宝贵信息。获取这些数据需要审慎的活检技术、足够的组织学切片、组织化学以及外科医生与病理学家的协作。对移行区解剖结构的关键考量以及已发表的“移行区拖出术”研究表明，仍需开展更多研究以确定应从HSCR患者切除多少含神经节的肠段。许多HSCR易感基因已被识别，但除非家族史或临床发现提示综合征性HSCR，否则突变分析的实际价值有限。
