胰腺炎的遗传学评估。
Genetic Evaluation of Pancreatitis.
机构信息
Henry D. Janowitz Division of Gastroenterology, One Gustave L. Levy Place, Box 1069, New York, NY 10029, USA; Samuel Bronfman Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, USA.
Henry D. Janowitz Division of Gastroenterology, One Gustave L. Levy Place, Box 1069, New York, NY 10029, USA; Samuel Bronfman Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, USA.
出版信息
Gastrointest Endosc Clin N Am. 2022 Jan;32(1):27-43. doi: 10.1016/j.giec.2021.08.006.
Hereditary pancreatitis (HP) is a rare inherited chronic pancreatitis (CP) with strong genetic associations, with estimated prevalence ranging from 0.3 to 0.57 per 100,000 across Europe, North America, and East Asia. Apart from the most well-described genetic variants are PRSS1, SPINK1, and CFTR, many other genes, such as CTRC, CPA1, and CLDN2 and CEL have been found to associate with HP, typically in one of the 3 main mechanisms such as altered trypsin activity, pancreatic ductal cell secretion, and calcium channel regulation. The current mainstay of management for patients with HP comprises genetic testing for eligible individuals and families, alcohol and tobacco cessation avoidance, pain control, and judicious screening for complications, including exocrine and endocrine insufficiency and pancreatic cancer.
遗传性胰腺炎（HP）是一种罕见的遗传性慢性胰腺炎（CP），与遗传密切相关，在欧洲、北美和东亚的患病率估计在每 10 万人中有 0.3 至 0.57 人。除了最常见的遗传变异型 PRSS1、SPINK1 和 CFTR 外，许多其他基因，如 CTRC、CPA1、CLDN2 和 CEL，也被发现与 HP 相关，通常与改变胰蛋白酶活性、胰腺导管细胞分泌和钙通道调节等 3 种主要机制之一有关。目前，HP 患者的主要治疗方法包括对符合条件的个体和家庭进行基因检测、避免饮酒和吸烟、控制疼痛以及谨慎筛查并发症，包括外分泌和内分泌功能不全以及胰腺癌。
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