遗传性胰腺炎诊治进展

Progress in the diagnosis and treatment of hereditary pancreatitis

遗传性胰腺炎(hereditary pancreatitis,HP)是一种少见的常染色体显性遗传病,其发病与多种基因突变有关。HP临床上可表现为急性、复发性和慢性胰腺炎等。HP具有发病年龄早、家族聚集性和罹患胰腺癌风险高等特点。HP与一般急慢性胰腺炎的治疗相似,包括生活饮食干预、药物、内镜和外科手术治疗等。现阶段,需加强针对HP的早期诊断,以及个体化、多学科联合治疗策略。

Hereditary pancreatitis(HP) is a rare and autosomal dominant disorder involving many genetic mutations affecting the functions of pancreatic digestive enzymes. The clinical manifestations of HP may present similarly to other causes of acute and chronic pancreatitis. HP has the characteristics of early onset, familial and high risk of pancreatic cancer. HP patients tend to present at an early age, have a family history of pancreatitis and a significantly increased risk for the development of pancreatic cancer. The clinical management of HP is in the same way as the treatment of other causes of acute and chronic pancreatitis, which include the preventative measures, medical management, endoscopic interventions and surgery. Early diagnosis, individualized and multidisciplinary treatment strategies of HP should be strengthened.