Vo Tran Thi Luong, Vu Hoang Anh, Ho Chuong Quoc, Ma Nguyen Phuoc, Ho Dung Dang Quy, Bui Hoang Huu
Department of Internal Medicine University of Medicine and Pharmacy at Ho Chi Minh City Ho Chi Minh City Vietnam.
Department of Gastroenterology Cho Ray Hospital Ho Chi Minh City Vietnam.
JGH Open. 2025 Sep 18;9(9):e70275. doi: 10.1002/jgh3.70275. eCollection 2025 Sep.
Mutations in the and genes are recognized as important risk factors for chronic pancreatitis (CP); however, their clinical relevance in Vietnamese populations remains unclear. This cross-sectional study investigated the prevalence and associated factors of these mutations in Vietnamese CP patients.
CP was diagnosed according to the 2020 American College of Gastroenterology Clinical Guidelines. Genetic analysis was performed via Sanger DNA sequencing. One hundred sixty CP patients were included from December 2022 to June 2024 at Cho Ray Hospital, Vietnam. Pathogenic mutations were identified in 64 patients (40.0%), with mutations found in 36.8% and mutations in 4.4%. The most frequent variants were c.101A>G (23.7%) and c.194+2T>C (14.3%), and their prevalence was highest in idiopathic CP cases. Multivariate logistic regression analysis revealed that younger age (OR: 0.95; 95% CI: 0.92-0.98), diabetes mellitus (OR: 2.55; 95% CI: 1.11-6.04), pancreatic duct stones (OR: 7.08; 95% CI: 2.81-20.40), and prior surgical intervention (OR: 4.14; 95% CI: 1.34-14.10) were independently associated with pathogenic mutations.
These findings suggest a high prevalence of mutations, particularly c.101A>G and c.194+2T>C, among Vietnamese CP patients. The significant factors associated with genetic mutations were younger age, diabetes mellitus, pancreatic duct stones, and prior surgical intervention.
CFTR和SPINK1基因的突变被认为是慢性胰腺炎(CP)的重要危险因素;然而,它们在越南人群中的临床相关性仍不清楚。这项横断面研究调查了越南CP患者中这些突变的患病率及相关因素。
根据2020年美国胃肠病学会临床指南诊断CP。通过桑格DNA测序进行基因分析。2022年12月至2024年6月期间,越南胡志明市综合医院纳入了160例CP患者。64例患者(40.0%)鉴定出致病突变,其中CFTR突变占36.8%,SPINK1突变占4.4%。最常见的CFTR变异是c.101A>G(23.7%)和c.194+2T>C(14.3%),其患病率在特发性CP病例中最高。多因素logistic回归分析显示,年龄较小(OR:0.95;95%CI:0.92-0.98)、糖尿病(OR:2.55;95%CI:1.11-6.04)、胰管结石(OR:7.08;95%CI:2.81-20.40)和既往手术干预(OR:4.14;95%CI:1.34-14.10)与致病突变独立相关。
这些发现表明,越南CP患者中CFTR突变的患病率很高,尤其是c.101A>G和c.194+2T>C。与基因突变相关的显著因素是年龄较小、糖尿病、胰管结石和既往手术干预。