Beer Sebastian, Mössner Joachim
Dtsch Med Wochenschr. 2017 May;142(9):673-677. doi: 10.1055/s-0043-100810. Epub 2017 Apr 28.
Multiple genetic associations with chronic pancreatitis have been identified. In cases with hereditary pancreatitis family history is reported and mostly distinct causative variants in cationic trypsinogen (PRSS1) are identified. Furthermore, variants in other genes of proteases and anti-proteases of the digestive enzyme cascade (SPINK1, CTRC, CPA1), are also associated with chronic pancreatitis. Interestingly, penetrance of associated variants as well as the disease course are variable. As such environmental factors like smoking may play an important role. Patients with chronic pancreatitis of unknown etiology should be offered genetic testing after referral to a pancreatic center.
已经确定了多种与慢性胰腺炎相关的基因关联。在遗传性胰腺炎病例中，有家族病史报告，并且大多能鉴定出阳离子胰蛋白酶原（PRSS1）中不同的致病变体。此外，消化酶级联反应的其他蛋白酶和抗蛋白酶基因（SPINK1、CTRC、CPA1）中的变体也与慢性胰腺炎有关。有趣的是，相关变体的外显率以及病程是可变的。因此，像吸烟这样的环境因素可能起重要作用。病因不明的慢性胰腺炎患者在转诊至胰腺中心后应接受基因检测。
