Studies of idiopathic intestinal pseudoobstruction. II. Hereditary hollow visceral myopathy: family studies.
Studies of idiopathic intestinal pseudoobstruction. II. Hereditary hollow visceral myopathy: family studies.
复制标题
特发性假性肠梗阻的研究。
DOI：
10.1016/s0016-5085(19)32222-x
复制
发表时间：
1977
期刊：
影响因子：
29.4
通讯作者：
C. E. Pope
中科院分区：
文献类型：
--
作者：
M. Schuffler;C. E. Pope
对一名15岁特发性肠假性梗阻女孩的12名亲属进行了食管测压或电影-食管造影研究，以确定该疾病是否遗传传播。4名母系亲属，包括患者的母亲、13岁的弟弟、一名阿姨及其一名阿姨的孩子有轻度吞咽困难和食管运动功能障碍。此外，患者的母亲和13岁的弟弟分别有膀胱松弛和双侧输尿管反流。兄弟光镜下膀胱平滑肌异常。我们的结论是，该家族的特发性肠假性梗阻继发于平滑肌全身性疾病，平滑肌全身性疾病是一种显性的表达特征，在一些家族成员中表现为轻度的食管平滑肌功能障碍，有时伴有膀胱功能障碍。我们建议将这种形式的特发性肠假性梗阻称为“遗传性中空内脏肌病”。食道测压可能被证明是研究这种疾病遗传的一种有用的工具。
Twelve relatives of a 15-year-old girl with idiopathic intestinal pseudoobstruction were studied with esophageal manometry or cine-esophagography to determine whether the disease was genetically transmitted. Four maternal relatives, including the patient’s mother, 13-year-old brother, one aunt, and one of that aunt’s children had mild dysphagia and esophageal motor dysfunction. In addition, the patient’s mother and 13- year-old brother had a flaccid bladder and bilateral ureteral reflux, respectively. The brother had abnormal bladder smooth muscle by light microscopy. We conclude that idiopathic intestinal pseudoobstruction in this family is secondary to a generalized disease of smooth muscle which is transmitted as a dominant trait of variable expressivity, manifested in some family members as a mild disorder of esophageal smooth muscle dysfunction, at times accompanied by bladder dysfunction. We suggest that this form of idiopathic intestinal pseudoobstruction be called "hereditary hollow visceral myopathy.” Esophageal manometry may prove useful as a tool for studying the inheritance of this disorder.