Witt Heiko, Bhatia Eesh
Klinik und Poliklinik für Kinder- und Jugendmedizin des Klinikums rechts der Isar, Technische Universität München, Kölner Platz 1, 80804 Munich, Germany.
Rev Endocr Metab Disord. 2008 Sep;9(3):213-26. doi: 10.1007/s11154-008-9088-y.
Tropical calcific pancreatitis (TCP) is a subtype of chronic pancreatitis which is unique to tropical regions. Patients present at young age with recurrent abdominal pain, nutritional deficiencies, and insulin-requiring diabetes. For a long time, the aetiology of this disorder was poorly understood. Several environmental factors, such as malnutrition or the consumption of toxic food components such as cyanogenic glycosides, were proposed as pathogenic factors. In the last decade, a major impact on the understanding of the aetiology of TCP has come from genetic studies on hereditary and idiopathic chronic pancreatitis. Genetic alterations in at least five genetic loci are clearly associated with chronic pancreatitis in the Western world. These include alterations in genes coding for trypsinogens, the most abundant digestive enzymes (PRSS1 and PRSS2), the trypsin inhibitor (SPINK1) and the trypsin-degrading enzyme, chymotrypsinogen C (CTRC). In addition, alterations in the cystic fibrosis (CFTR) gene are associated with idiopathic pancreatitis. TCP clinically resembles non-alcoholic chronic pancreatitis of Western countries, suggesting that similar genetic defects might also be of importance in this disease entity. Indeed, alterations in at least two genes, SPINK1 and CTRC, are strongly associated with TCP. The current review focuses on the recent developments in the understanding of the genetic basis of inherited pancreatitis, with special emphasis on TCP.
热带钙化性胰腺炎（TCP）是慢性胰腺炎的一种亚型，为热带地区所特有。患者发病年龄较轻，表现为反复腹痛、营养缺乏以及需使用胰岛素的糖尿病。长期以来，这种疾病的病因一直未得到充分了解。曾有几种环境因素，如营养不良或食用含氰苷等有毒食物成分，被认为是致病因素。在过去十年中，遗传研究对理解TCP的病因产生了重大影响，这些研究涉及遗传性和特发性慢性胰腺炎。在西方世界，至少五个基因位点的遗传改变与慢性胰腺炎明显相关。这些基因改变包括编码胰蛋白酶原（最丰富的消化酶，PRSS1和PRSS2）、胰蛋白酶抑制剂（SPINK1）以及胰蛋白酶降解酶糜蛋白酶原C（CTRC）的基因改变。此外，囊性纤维化（CFTR）基因的改变与特发性胰腺炎有关。TCP在临床上类似于西方国家的非酒精性慢性胰腺炎，这表明类似的基因缺陷在这种疾病实体中可能也很重要。事实上，至少两个基因SPINK1和CTRC的改变与TCP密切相关。本综述重点关注遗传性胰腺炎遗传基础研究的最新进展，尤其侧重于TCP。
