Roy A D, Bharucha H, Nevin N C, Odling-Smee G W
Clin Genet. 1980 Oct;18(4):291-7. doi: 10.1111/j.1399-0004.1980.tb00888.x.
Four individuals with idiopathic intestinal pseudo-obstruction (IIP), a familial visceral neuropathy with autosomal dominant inheritance, are presented. The disorder is characterised by abdominal colic, abdominal distension and diarrhoea, and is of a progressive nature with relapses and remissions. The main feature is a disturbance of motility in the affected intestine, with histological evidence of a neuronal disorder, characterised by hyperplasia and eventual atrophy. Management of the condition is difficult; initially, treatment should be conservative by nasogastric suction with intravenous nutrition. When laparotomy is undertaken to exclude mechanical obstruction, resection of the intestine is inadvisable, and ileo-colic anastomosis may be beneficial.
本文介绍了四名患有特发性肠假性梗阻（IIP）的患者，这是一种常染色体显性遗传的家族性内脏神经病变。该疾病的特征为腹部绞痛、腹胀和腹泻，呈进行性，有复发和缓解期。主要特征是受累肠道的运动功能紊乱，组织学证据显示存在神经元疾病，表现为增生并最终萎缩。该病的治疗很困难；起初，治疗应采用保守方法，通过鼻胃管抽吸并给予静脉营养。当进行剖腹手术以排除机械性梗阻时，不建议进行肠切除，回结肠吻合术可能有益。
