遗传性胰腺炎的研究现状

Research status of hereditary pancreatitis

目的探讨遗传性胰腺炎(HP)的临床病理特征、发病机制并探讨其诊断及治疗现状。方法搜索近年来有关HP研究的相关文献并加以综述。结果 HP与胆石症、过量饮酒、高脂血症等常见原因引发的胰腺炎在组织形态学、功能学和临床表现上类似,不易区分,但其又以发病年龄早、具有家族性和胰腺癌患病风险高为特点而有别于其他类型的慢性胰腺炎。HP主要由阳离子胰蛋白酶原突变引起,其突变类型主要包括R122H、N29I、A16V、K23R等,其中R122H和N29I是最为常见的两种突变类型。HP尚无特异性的治疗手段,治疗原则与其他病因引发的胰腺炎大致相同,主要包括营养支持、控制血糖、补充胰腺外分泌功能不全、镇痛等,除了内科治疗外,外科干预也是治疗HP的重要手段,其手术方式主要包括胰腺部分切除术、全胰切除术或全胰切除术联合胰岛细胞自体移植术。结论 HP是一种以胰腺炎的反复发作为特点的常染色体显性遗传病,对高度怀疑HP者并可进行相关的基因检测,HP的治疗仍然面临着巨大挑战,临床医师应继续深入探索HP的发病机制,并进一步开展多中心、大样本量的实验性研究,从而来确定其最佳的治疗策略。

Objective To investigate clinicopathologic features, pathogenesis, and diagnosis and treatment of hereditary pancreatitis （HP）. Method The relevant literatures on HP research in recent years were searched and reviewed. Results The HP was similar to the pancreatitis caused by the cholelithiasis, excessive alcohol consumption, hyperlipidemia, etc. in the histomorphology, function, and clinical manifestations and it was difficult to be distinguished. However, HP was different from the other types of chronic pancreatitis due to its early onset, familial, and high risk of pancreatic cancer. The HP was mainly caused by the PRSS1 mutations, and its mutation types mainly included the R122H, N29I, A16V, K23R, etc., among which the R122H and N29I were the two most common types of mutations. There was no specific treatment for the HP. The principles of treatment of HP were similar to the pancreatitist caused by other etiologies, including the nutritional support, blood sugar control, analgesia, etc.. In addition to the medical treatment, the surgical intervention was also the important means for the treatment of HP, including the pancreatic partial resection, total pancreatectomy or total pancreatectomy combined with islet cell autografting. Conclusions HP is an autosomal dominant hereditary disease characterized by recurrent attacks of pancreatitis. Relevant gene tests could be performed for patient with highly suspected HP. It faces great challenges in treatment of HP. Pathogenesis of HP needs to be constantly explored and experimental study of multicenter and large sample needs to be further studied in order to determine its best treatment strategy.