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| 合并消化道出血的Cowden综合征1例 |
| A case of Cowden Syndrome complicated by gastrointestinal bleeding |
| 投稿时间：2025-10-13 修订日期：2026-01-30 |
| DOI： |
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| 中文关键词: Cowden综合征 消化道出血 多学科诊疗 病例报告 |
| 英文关键词:Cowden Syndrome Gastrointestinal Bleeding Multidisciplinary Team Case Report |
| 基金项目:浙江省衢州市衢江区科技项目(项目编号:QJ2023019)；浙江省衢州市科技项目(项目编号:2023QD091)；浙江省医学会临床医学专项资金(项目编号:2024ZYZC-A534) |
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| 中文摘要: |
| Cowden综合征（Cowden Syndrome, CS）是一种由PTEN基因突变引起的罕见常染色体显性遗传病。该病主要表现为多系统错构瘤病变和恶性肿瘤易感性，消化道典型表现为广泛性息肉形成，其合并活动性出血者文献记录罕见[1]。本文报道1例以十二指肠球部溃疡伴出血为首发表现的CS病例，旨在探讨其临床特征及诊疗策略，通过本病例提示对罕见遗传性肿瘤综合征合并急性出血的诊断思路，强调多学科协作在复杂病例管理中的重要性。 |
| 英文摘要: |
| Cowden Syndrome (CS) is a rare autosomal dominant genetic disorder caused by mutations in the PTEN gene. This disease is mainly characterized by multi-system hamartoma lesions and susceptibility to malignant tumors. The typical manifestation in the digestive tract is the formation of extensive polyps. Literature records of cases combined with active bleeding are rare [1]. This article reports a case of CS with duodenal bulb ulcer accompanied by hemorrhage as the initial manifestation, aiming to explore its clinical features and treatment strategies. Through this case, it suggests the diagnostic ideas for rare hereditary tumor syndroms combined with acute hemorrhage, emphasizing the importance of multidisciplinary collaboration in the management of complex cases. |
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