Frossard Jean Louis, Morris Michael A
aService of Gastroenterology and Hepatology, Geneva University Hospital, Geneva, Switzerland.
bSynlab Suisse, Lausanne, Switzerland.
Case Rep Gastroenterol. 2017 Mar 3;11(1):85-88. doi: 10.1159/000456654. eCollection 2017 Jan-Apr.
The SPINK1 protein is a potent antiprotease that can inactivate any intrapancreatic trypsin activity that would otherwise induce autodigestion of the pancreas. mutations have been recognized to be associated with chronic pancreatitis in patients without a family history of pancreatitis. We here describe the case of a 24-year-old woman referred to our service for recurrent abdominal pain and search for the cause of chronic calcifying pancreatitis, who was found to carry 2 mutations.
丝氨酸蛋白酶抑制剂Kazal型1（SPINK1）蛋白是一种有效的抗蛋白酶，它可以使胰腺内任何会引发胰腺自身消化的胰蛋白酶活性失活。在没有胰腺炎家族史的患者中，已确认该基因突变与慢性胰腺炎相关。我们在此描述了一名24岁女性的病例，她因反复腹痛前来就诊，以寻找慢性钙化性胰腺炎的病因，结果发现其携带两个突变。
