Serine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis.
Serine Protease Inhibitor Kazal Type 1 (SPINK1) c.194+2T > C Mutation May Predict Long-term Outcome of Endoscopic Treatments in Idiopathic Chronic Pancreatitis.
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DOI：
10.1097/md.0000000000002046
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发表时间：
2015-11
期刊：
影响因子：
1.6
通讯作者：
Li ZS
中科院分区：
文献类型：
--
作者：
Sun C;Liu MY;Liu XG;Hu LH;Xia T;Liao Z;Li ZS
内窥镜介入是特发性慢性胰腺炎常用的治疗方法。丝氨酸蛋白酶抑制因子1(SPINK1)194+2T>；C突变是中国人胰腺炎患者中最常见的突变，影响特发性慢性胰腺炎患者的临床病程。我们进行了这项研究，以确定这种突变对内窥镜治疗结果的影响。在这项研究中，我们招募了423名患者。其中，101例无其他相关突变的特发性慢性胰腺炎患者成功完成了内窥镜手术并完成了随访。观察两组患者的临床表现，包括Izbicki疼痛评分、外、内分泌功能。采用基因测序方法检测SPINK1194+2T>；C突变。58例(57.43%)患者存在C.194+2T>；C突变。与疼痛缓解相关的因素包括C.194+2T>；C突变(P = 0.011)、治疗前的剧烈疼痛(P = 0.005)以及必要的后续内窥镜治疗(P <； 0.001)。与无内含子突变的患者相比，有内含子突变的患者内分泌功能恶化的患者更多(P = 0.001)。携带C.194+2T>；C突变的患者通过内窥镜治疗缓解疼痛的可能性较小。他们也有更高的内分泌功能恶化风险。SPINK1C.194+2T>；C突变可作为特发性慢性胰腺炎患者治疗前的预测指标。
Endoscopic interventional is a commonly used treatment method for idiopathic chronic pancreatitis. Serine protease inhibitor Kazal type 1 (SPINK1) 194+2T>C mutation is most frequently observed in Chinese pancreatitis patients and influences the clinical course of idiopathic chronic pancreatitis patients. We conducted this study to determine the impacts of this mutation on the outcome of endoscopic treatments. In this study, we enrolled 423 patients. Among them, 101 idiopathic chronic pancreatitis patients without other relevant mutations had a successful endoscopic procedure and completed follow-up. Clinical characteristics including Izbicki pain score, exocrine and endocrine function, were evaluated. Genetic sequencing was conducted to detect SPINK1 194+2T>C mutations. The c.194+2T>C mutation was found in 58 (57.43%) patients. Factors relevant to pain relief are c.194+2T>C mutation (P = 0.011), severe pain before treatment (P = 0.005), and necessary subsequent endoscopic treatments (P < 0.001). More patients with the intronic mutation had deteriorated endocrine function (P = 0.001) relative to those patients without the mutation. Patients carrying the c.194+2T>C mutation were less likely to achieve pain relief through endoscopic treatments. They also have a higher risk of endocrine function deterioration. SPINK1 c.194+2T>C mutation may be applied as a pretreatment predictor in idiopathic chronic pancreatitis patients.