Congenital Stenosis of the Lower Esophagus Associated with Leiomyoma and Leiomyosarcoma of the Gastrointestinal Tract
Congenital Stenosis of the Lower Esophagus Associated with Leiomyoma and Leiomyosarcoma of the Gastrointestinal Tract
复制标题
与胃肠道平滑肌瘤和平滑肌肉瘤相关的先天性食管下段狭窄
DOI：
10.1177/000348948809700504
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发表时间：
1988
期刊：
影响因子：
--
通讯作者：
N. Sherman
中科院分区：
文献类型：
--
作者：
Seymour R. Cohen;J. Thompson;N. Sherman
本文的目的是报告我们四代人的先天性食管下段狭窄与胃肠道平滑肌瘤的分析。两名家庭成员死于平滑肌瘤的肉瘤变性，其中一名在恶性肿瘤切除2年后仍然活着。三名家庭成员接受了先天性狭窄的手术修复。1例患者无需手术修复，反复扩张可缓解症状。由于该家族没有直系女性后裔，因此尚不清楚这种遗传性疾病是否由性别连锁的显性基因携带。文献中没有关于先天性食道狭窄的家族性倾向的报道，也没有关于食管狭窄与胃肠道平滑肌瘤和后来发展为肉瘤变性相关的报道。复习文献，详细介绍食道及胃肠道平滑肌瘤的证候，描述其家谱及患者特点，并对研究进行总结。
The purpose of this paper is to report our analysis of four generations of a family with congenital strictures of the lower esophagus associated with leiomyoma of the gastrointestinal tract. Two members of the family died of sarcomatous degeneration of the leiomyoma and one is still alive 2 years after resection of the malignancy. Three family members had surgical repair of the congenital stricture. Surgical repair was unnecessary in one, for whom repeated dilatations alleviated the symptoms. Since there were no direct female descendants in this family, it is unknown whether this hereditary disease is carried by a sex-linked dominant gene. There are no reports in the literature of a familial tendency to congenital strictures of the esophagus, nor are there any reports of strictures in association with gastrointestinal leiomyoma and the later development of sarcomatous degeneration. The literature is reviewed, syndromes of leiomyoma of the esophagus and gastrointestinal tract are detailed, the particulars of the family tree and the patients are described, and the study is summarized.