Clinicopathological studies on the diagnosis, the treatment and the pathogenesis if pseudo-Hirschsprung's disease and related disorders

本文报告了日本文部科学省合作研究资助(A)(编号03304037)20年来对130例先天性肠运动功能障碍患者的治疗情况。该疾病被定义为先天性非机械性肠梗阻，并存在三端直肠壁内神经节。壁内神经节异常86例，正常37例，不能明确8例。壁内神经节异常中，未成熟神经节27例，神经节细胞减少症29例，未成熟神经节和神经节细胞减少症20例，神经元性肠发育不良5例，节段性异常2例。肌间神经丛正常者中，15例为慢性特发性假性肠梗阻综合征(CIIPS)，11例为巨细胞炎-小结肠症综合征(MMIHS)。大多数无神经节细胞缺乏症的先天性肠运动功能障碍患者的乙酰胆碱酯酶活性正常。壁内神经节正常的患者直肠肛门反射正常，而神经节细胞减少症或未成熟神经节病患者锁定直肠肛门反射的患者明显更多。未成熟神经节细胞增多症患者预后较好，神经节细胞减少症、CIIPS和MMIHS患者预后较差。我们将假性先天性巨结肠症定义为先天性肠运动功能障碍患者的肠壁内神经节异常群。这些发现表明，psudo-Hirschsprung病仍然是一种严重的儿童疾病。

On hundred and thirty cases congenital intestinal motor dysfunction were collocted by number of Grant-in Aid for Co-operative Research (A) (No.03304037) from the Ministry of Education, Science and Culture, Japan during the post 20 years. The disorder was defined as a congenital, non-mechanical obstruction of the intestine with the presence of intramural ganglia in the triminal rectum. Intramural ganglia were abnormal in 86 cases, normal in 37, and could not be determined in 8. Of those with abnormal intramural ganglia, 27 had immature ganglia, 29 had hypoganglionosis, 20 had both the immature ganglia and hypoganglionosis, 5 had neuronal intestinal dysplasia, and 2 had a segmental anomaly. Of those with a normal myenteric plexus, 15 had chronic idiopathic intestinal pseudo-obstruction syndrome (CIIPS) and 11 had megacytis-microcolon intestinal hyperristalsis syndrome (MMIHS). Most cases congenital intestinal motor dysfunction without aganglionosis had normal acetylcholinesterase activity. While cases with normal intramural ganglia had normal rectoanal reflex, a significantly greater number of patients with hypoganglionosis or immature ganglionosis locked rectoanal reflex. While patients with immature ganglionosis had good prognosis, patients with hypoganglionosis, CIIPS and MMIHS had poor prognosis. We define pseudo-Hirschsprung's disease as abnormal group of intramural ganglia among cases with congential intestinal motor dysfunction. These findings indicate that psudo-Hirschsprung's disease remains a serious disease of childhood.