SPINK1 c.194+2T>C 突变对中国特发性慢性胰腺炎患者临床病程的影响。

The contribution of the SPINK1 c.194+2T>C mutation to the clinical course of idiopathic chronic pancreatitis in Chinese patients.

机构信息

Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.

出版信息

Dig Liver Dis. 2013 Jan;45(1):38-42. doi: 10.1016/j.dld.2012.08.008. Epub 2012 Sep 25.

DOI:10.1016/j.dld.2012.08.008

PMID:23017645

Abstract

BACKGROUND

Recent data suggest that the serine protease inhibitor Kazal type 1 (SPINK1) gene mutation is associated with idiopathic chronic pancreatitis. However, few studies have focused on the serine protease inhibitor Kazal type 1 c.194+2T>C mutation. Therefore, our goal was to study the prevalence and impact of serine protease inhibitor Kazal type 1 mutations on the clinical profile of idiopathic chronic pancreatitis patients in China.

METHODS

A retrospective-cohort study of 118 Chinese patients with idiopathic chronic pancreatitis was performed, and genetic tests were carried out to detect SPINK1 mutations. Subjects without pancreatitis were used as controls. In total, 118 idiopathic chronic pancreatitis patients and 100 control subjects were evaluated.

RESULTS

The serine protease inhibitor Kazal type 1 c.194+2T>C variant was present in 44.9% of patients with idiopathic chronic pancreatitis. The frequency of diabetes in idiopathic chronic pancreatitis patients with the serine protease inhibitor Kazal type 1 c.194+2T>C mutation (39.6%) was higher than that of patients without the mutation (9.2%). The time to occurrence of diabetes mellitus after idiopathic chronic pancreatitis symptom onset is significantly influenced by the c.194+2T>C mutation (p<0.001). In addition, the mean age of diabetes onset in patients with the serine protease inhibitor Kazal type 1 c.194+2T>C mutation (38.33 ± 9.50) was significantly younger than that of patients without this mutation (49.67 ± 6.74).

CONCLUSIONS

The presence of the serine protease inhibitor Kazal type 1 c.194+2T>C mutation seems to be associated with idiopathic chronic pancreatitis and could predispose individuals to pancreatic diabetes onset at an earlier age.

摘要

背景

最近的数据表明，丝氨酸蛋白酶抑制剂 Kazal 型 1（SPINK1）基因突变与特发性慢性胰腺炎有关。然而，很少有研究关注丝氨酸蛋白酶抑制剂 Kazal 型 1 c.194+2T>C 突变。因此，我们的目标是研究丝氨酸蛋白酶抑制剂 Kazal 型 1 突变在中国特发性慢性胰腺炎患者临床特征中的流行情况及其影响。

方法

对 118 例中国特发性慢性胰腺炎患者进行回顾性队列研究，并进行基因检测以检测 SPINK1 突变。未患胰腺炎的患者作为对照。共评估了 118 例特发性慢性胰腺炎患者和 100 例对照。

结果

丝氨酸蛋白酶抑制剂 Kazal 型 1 c.194+2T>C 变体在 44.9%的特发性慢性胰腺炎患者中存在。特发性慢性胰腺炎患者中丝氨酸蛋白酶抑制剂 Kazal 型 1 c.194+2T>C 突变者（39.6%）糖尿病的发生率高于无突变者（9.2%）。特发性慢性胰腺炎症状发作后发生糖尿病的时间明显受 c.194+2T>C 突变的影响（p<0.001）。此外，丝氨酸蛋白酶抑制剂 Kazal 型 1 c.194+2T>C 突变患者糖尿病发病的平均年龄（38.33 ± 9.50）明显低于无此突变的患者（49.67 ± 6.74）。