Anuras S, Shaw A, Christensen J
Am J Hum Genet. 1981 Jul;33(4):584-91.
Ten reported families with chronic intestinal pseudoobstruction were reviewed. Although clinical manifestations and gastrointestinal contrast roentgenograms are similar in these families, the pathology and inheritance are quite different. Five families have degeneration and fibrosis of the gastrointestinal tract and urinary bladder, three have normal intestinal morphology, and one has degeneration of the myenteric plexus throughout the gastrointestinal tract. Four families are consistent with dominant inheritance, three are consistent with X-linked dominant transmission, and three are compatible with recessive inheritance. Patients in these families have a wide spectrum and degree of chronic and/or intermittent gastrointestinal symptoms. As many as 20% of the family cases discovered are asymptomatic. Operative procedures to drain or resect short dilated intestinal segments may help to relieve symptoms.
对十个报告的慢性肠假性梗阻家族进行了回顾。尽管这些家族中的临床表现和胃肠道造影X线照片相似，但病理和遗传情况却大不相同。五个家族存在胃肠道和膀胱的变性与纤维化，三个家族的肠道形态正常，一个家族的整个胃肠道肌间神经丛发生变性。四个家族符合显性遗传，三个家族符合X连锁显性遗传，三个家族符合隐性遗传。这些家族中的患者有广泛的慢性和/或间歇性胃肠道症状及不同程度的表现。所发现的家族病例中多达20%无症状。引流或切除短段扩张肠段的手术操作可能有助于缓解症状。
