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17号染色体短臂三体综合征患者的上消化道三联狭窄:病例报告及文献复习

Upper gastrointestinal triple stenosis in a patient with trisomy 17p syndrome: Case report and literature review.

作者信息

Ando Hiroko, Mori Hideki, Takabayashi Kaoru, Matsuura Noriko, Masaoka Tatsuhiro, Matsuzaki Juntaro, Saito Yoshimasa, Kato Motohiko, Kosaki Kenjiro, Kanai Takanori

机构信息

Department of Internal Medicine Division of Gastroenterology and Hepatology Keio University School of Medicine Tokyo Japan.

Center for Diagnostic and Therapeutic Endoscopy Keio University School of Medicine Tokyo Japan.

出版信息

DEN Open. 2024 Dec 23;5(1):e70043. doi: 10.1002/deo2.70043. eCollection 2025 Apr.

Abstract

Upper gastrointestinal stenosis, which can be congenital or acquired, can lead to dysphagia. The association between trisomy 17p syndrome, a rare chromosomal abnormality, and upper gastrointestinal stenosis is unclear. A 20-year-old man diagnosed with trisomy 17p syndrome was referred to our department due to recurrent vomiting. Esophagogastroduodenoscopy revealed stenotic areas in the esophagus, stomach, and duodenum. The congenital gastrointestinal stenosis present in both the duodenum and esophagus suggested that the stasis and reflux of digestive fluids exacerbated stenosis in the stomach and esophagus. Gastric acid suppression therapy and endoscopic dilation of the esophagus and duodenum effectively resolved the patient's vomiting symptoms.

摘要

上消化道狭窄可分为先天性或后天性,可导致吞咽困难。17号染色体短臂三体综合征是一种罕见的染色体异常疾病,其与上消化道狭窄之间的关联尚不清楚。一名20岁被诊断为17号染色体短臂三体综合征的男性因反复呕吐被转诊至我科。食管胃十二指肠镜检查发现食管、胃和十二指肠存在狭窄区域。十二指肠和食管均存在先天性胃肠道狭窄,提示消化液的淤滞和反流加剧了胃和食管的狭窄。胃酸抑制治疗以及食管和十二指肠的内镜扩张有效地缓解了患者的呕吐症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/42f1/11666419/bf511467af55/DEO2-5-e70043-g003.jpg

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