Kessmann Jennifer
Department of Family and Community Medicine, University of Texas Southwestern Medical Center at Dallas, 75390-9067, USA.
Am Fam Physician. 2006 Oct 15;74(8):1319-22.
Hirschsprung's disease (congenital megacolon) is caused by the failed migration of colonic ganglion cells during gestation. Varying lengths of the distal colon are unable to relax, causing functional colonic obstruction. Hirschsprung's disease most commonly involves the rectosigmoid region of the colon but can affect the entire colon and, rarely, the small intestine. The disease usually presents in infancy, although some patients present with persistent, severe constipation later in life. Symptoms in infants include difficult bowel movements, poor feeding, poor weight gain, and progressive abdominal distention. Early diagnosis is important to prevent complications (e.g., enterocolitis, colonic rupture). A rectal suction biopsy can detect hypertrophic nerve trunks and the absence of ganglion cells in the colonic submucosa, confirming the diagnosis. Up to one third of patients develop Hirschsprung's-associated enterocolitis, a significant cause of mortality. Patients should be monitored closely for enterocolitis for years after surgical treatment of Hirschsprung's disease. With proper treatment, most patients will not have long-term adverse effects and can live normally.
先天性巨结肠症是由孕期结肠神经节细胞迁移失败所致。不同长度的远端结肠无法松弛，导致功能性结肠梗阻。先天性巨结肠症最常累及结肠的直肠乙状结肠区域，但可影响整个结肠，极少数情况下也会影响小肠。该病通常在婴儿期出现，不过有些患者在生命后期会出现持续性严重便秘。婴儿的症状包括排便困难、喂养困难、体重增加不佳以及进行性腹胀。早期诊断对于预防并发症（如小肠结肠炎、结肠破裂）很重要。直肠吸引活检可检测到结肠黏膜下层肥厚的神经干以及神经节细胞缺失，从而确诊。高达三分之一的患者会发生先天性巨结肠相关小肠结肠炎，这是一个重要的死亡原因。在先天性巨结肠症手术治疗后的数年里，应对患者进行小肠结肠炎的密切监测。经过适当治疗，大多数患者不会有长期不良影响，能够正常生活。
