Anuras S, Mitros F A, Nowak T V, Ionasescu V V, Gurll N J, Christensen J, Green J B
Gastroenterology. 1983 Feb;84(2):346-53.
A new visceral myopathy family was identified. The disease in this family is transmitted by an autosomal recessive gene. Only 3 patients were identified from approximately 1500 family members. All 3 patients are the products of intermarriage. The patients had gastric atony, dilatation of the entire small bowel, and multiple diverticula throughout. Pathology of the jejunum showed fibrosis and degeneration, mainly of the longitudinal muscle layer, indistinguishable from that of previously reported families. Two of the patients also had ptosis and external ophthalmoplegia. Jejunal manometric studies were performed on the proband's asymptomatic mother and five siblings. All had normal esophageal manometric studies and upper gastrointestinal x-rays. The mother and three siblings had abnormal jejunal manometric studies characterized by the absence of phase 1 in some of the migrating motor complexes and increased motility indices in phase 2. We conclude that familial visceral myopathy can be transmitted by an autosomal recessive gene, and that jejunal manometry is a sensitive technique to identify asymptomatic heterozygotes.
发现了一个新的内脏肌病家族。该家族中的疾病由常染色体隐性基因传递。在大约1500名家庭成员中仅发现3例患者。所有3例患者均为近亲结婚的后代。患者有胃弛缓、整个小肠扩张以及遍布全肠的多发憩室。空肠病理显示纤维化和变性，主要在纵肌层，与先前报道的家族无法区分。其中2例患者还患有上睑下垂和眼外肌麻痹。对先证者无症状的母亲和5个兄弟姐妹进行了空肠测压研究。所有人的食管测压研究和上消化道X光检查均正常。母亲和3个兄弟姐妹的空肠测压研究异常，其特征为在一些移行性运动复合波中无第1相，且第2相的动力指数增加。我们得出结论，家族性内脏肌病可由常染色体隐性基因传递，并且空肠测压是识别无症状杂合子的敏感技术。
