Averbukh Leon D, Mavilia Marianna G
Internal Medicine, University of Connecticut Health Center, Hartford, USA.
Cureus. 2019 Jan 8;11(1):e3852. doi: 10.7759/cureus.3852.
Pancreatitis in both acute and chronic variants is a common health concern in the US as well as globally. While the most common etiologies for disease remain gallstone impaction in the common bile duct and alcohol abuse, recent studies have shown that genetics may play a significant role as well. Unfortunately, this correlation is not clearly defined and at present, we lack the ability to identify which patients with known pancreatic genetic polymorphisms will develop pancreatitis. We describe the case of a middle-aged male who presented with recurrent pancreatitis in the setting of the serine peptidase inhibitor, Kazal type 1 (SPINK-1) genetic polymorphism. Additionally, we discuss the mechanism behind SPINK-1 polymorphisms in the development of pancreatitis as well as the role of genetic screening for the polymorphism in the general population.
急性和慢性胰腺炎在美国以及全球都是常见的健康问题。虽然该疾病最常见的病因仍然是胆总管结石嵌顿和酒精滥用,但最近的研究表明,遗传因素也可能起重要作用。不幸的是,这种相关性尚未明确界定,目前,我们还无法确定哪些已知存在胰腺基因多态性的患者会患上胰腺炎。我们描述了一名中年男性的病例,该患者在存在丝氨酸蛋白酶抑制剂Kazal 1型(SPINK-1)基因多态性的情况下出现复发性胰腺炎。此外,我们还讨论了SPINK-1基因多态性在胰腺炎发生发展中的机制,以及该基因多态性在普通人群中的遗传筛查作用。