PDF(Pubmed)
Abstract：
The incidence of pancreatitis in children has increased over the past two decades. With advances in molecular biological techniques and clinical research, genetic variations have emerged as a pivotal etiological factor in pediatric pancreatitis. This review aims to summarize recent clinical research advancements in understanding pediatric pancreatitis caused by various gene mutations. As of the year 2020, researchers had identified 12 genes implicated in the pathogenesis of pancreatitis. These genes primarily contributed to the development of pancreatitis through three mechanisms. Pancreatitis resulting from these gene mutations exhibits several distinct characteristics, including early onset, a heightened risk of developing pancreatic duct stones, rapid disease progression, and a significantly increased risk of pancreatic endocrine and exocrine dysfunction, as well as pancreatic cancer in the future. Genetic sequencing is recommended for children with pancreatitis based on six indications. The sequencing not only assists in the clinical diagnosis but also enhances our understanding of the pathophysiology of pancreatitis.
摘要：
在过去的二十年中，儿童胰腺炎的发病率有所增加。随着分子生物学技术和临床研究的进步，遗传变异已成为小儿胰腺炎的重要病因.本文旨在总结近年来在理解各种基因突变引起的小儿胰腺炎方面的临床研究进展。截至2020年，研究人员已经确定了12个与胰腺炎发病机制有关的基因。这些基因主要通过三种机制促进胰腺炎的发展。由这些基因突变导致的胰腺炎表现出几个不同的特征，包括早期发作，胰管结石的风险增加,快速的疾病进展，胰腺内分泌和外分泌功能障碍的风险显著增加，以及未来的胰腺癌。根据六种适应症，建议对患有胰腺炎的儿童进行基因测序。测序不仅有助于临床诊断，而且增强了我们对胰腺炎病理生理学的理解。
