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Updated: Jan 17, 2026

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越南慢性胰腺炎患者的PRSS1,SPINK1突变和相关因素
Tran Thi Luong Vo1,2, Hoang Anh Vu3, Chuong Quoc Ho3
1Department of Internal Medicine University of Medicine and Pharmacy at Ho Chi Minh City Ho Chi Minh City Vietnam.
JGH open : an open access journal of gastroenterology and hepatology
|September 22, 2025
概括
这项研究发现,越南慢性胰腺炎 (CP) 患者中SPINK1基因突变的患病率很高. 年龄较小,糖尿病,管道结石和之前的手术与这些遗传突变有关.
科学领域:
- 遗传学 是一个遗传学.
- 胃肠病学 胃肠病学
- 临床医学 临床医学
背景情况:
- PRSS1和SPINK1基因突变是已知的慢性胰腺炎 (CP) 的风险因素.
- 这些突变在越南人群中的临床意义以前尚不清楚.
研究的目的:
- 调查越南CP患者中PRSS1和SPINK1基因突变的患病率和相关因素.
主要方法:
- 越南Cho Ray医院对160名CP患者进行的横截面研究.
- 诊断CP遵循了2020年美国胃肠病学院临床指南.
- 用桑格尔DNA测序进行了基因分析.
主要成果:
- 在40.0%的患者中发现了致病突变,其中SPINK1突变在36.8%和PRSS1在4.4%中.
- 最常见的SPINK1变体是c.101A>G (23.7%) 和c.194+2T>C (14.3%),在异常性心脏病中普遍存在.
- 年轻的年龄,糖尿病,胰腺管道结石和之前的手术都与突变独立相关.
结论:
- 在越南CP患者中,SPINK1突变,特别是c.101A>G和c.194+2T>C,非常普遍.
- 在CP的遗传突变与年轻的年龄,糖尿病,胰腺管道结石和之前的手术干预显著相关.
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