Rygiel Agnieszka Magdalena, Wojnicka-Stolarz Małgorzata, Niepokój Katarzyna, Oracz Grzegorz, Bal Jerzy, Wertheim-Tysarowska Katarzyna, Gutkowski Krzysztof
Dev Period Med. 2015 Jul-Sep;19(3 Pt 2):347-50.
Chronic pancreatitis (CP) is characterized by progressive damage to the exocrine and endocrine cell structures and pancreatic ducts with subsequent fibrosis of the organ. Patients with no apparent etiological factor are classified as having idiopathic CP (ICP). Genetic studies indicate the importance of mutations in the serine protease inhibitor, Kazal type 1 gene (SPINK1) in the pathogenesis of CP This report describes a case of a 29-year-old Polish-Vietnamese patient with the p.Asn34Ser (p.N34S) homozygous mutation in the SPINK1 gene. The patient was hospitalized due to pain of average intensity in the epigastric area which occurred for the first time in his life. Imaging examination showed the atrophy of the pancreatic parenchyma with the presence of numerous small calcifications and a single calcified lodgement with a diameter of 22 mm in the distal segment of Wirsung 's duct. Clinical interview did not reveal any obvious etiological pancreatitis risk factors implying the causative role of the p.Asn34Ser homozygous mutation of SPINK1 in this case as proven in our investigation.
慢性胰腺炎（CP）的特征是外分泌和内分泌细胞结构以及胰腺导管进行性受损，随后器官发生纤维化。无明显病因的患者被归类为特发性慢性胰腺炎（ICP）。基因研究表明，丝氨酸蛋白酶抑制剂Kazal 1型基因（SPINK1）突变在慢性胰腺炎发病机制中具有重要意义。本报告描述了一名29岁波兰裔越南患者，其SPINK1基因存在p.Asn34Ser（p.N34S）纯合突变。该患者因上腹部首次出现中度疼痛而住院。影像学检查显示胰腺实质萎缩，有大量小钙化灶，在主胰管远端有一个直径22 mm的单个钙化灶。临床访谈未发现任何明显的胰腺炎病因风险因素，这表明在我们的研究中，本病例中SPINK1的p.Asn34Ser纯合突变具有致病作用。
