Lal Alysandra, Lal Dave R
Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.
Pediatr Surg Int. 2010 Dec;26(12):1193-9. doi: 10.1007/s00383-010-2684-4. Epub 2010 Aug 10.
Hereditary chronic pancreatitis (HCP) is a rare disease in which chronic pancreatitis develops in childhood. HCP has autosomal dominant inheritance with approximately 80% penetrance. Diagnostic criteria are not universally agreed upon but the EUROPAC trial defined it as two first-degree relatives or at least 3 second-degree relatives in two or more generations, with chronic pancreatitis for which there is no other etiology. The gene for HCP was originally identified on chromosome 7 and subsequently many other genes have been reported to be associated with HCP. To date, no single genetic alteration has been found that is necessary for the development of HCP. In a recent study, 81% of patients with HCP were found to have a mutation of the PRSS1 gene. Patients with HCP are at risk for developing exocrine and endocrine insufficiency and there is a 50-fold increased risk of pancreatic cancer in HCP patients as compared with the general population.
遗传性慢性胰腺炎（HCP）是一种罕见疾病，慢性胰腺炎在儿童期发病。HCP具有常染色体显性遗传，外显率约为80%。诊断标准尚未达成普遍共识，但欧洲胰腺病协作组（EUROPAC）试验将其定义为两代或更多代中的两个一级亲属或至少3个二级亲属患有慢性胰腺炎，且不存在其他病因。HCP基因最初在7号染色体上被鉴定出来，随后有许多其他基因被报道与HCP相关。迄今为止，尚未发现单一的基因改变是HCP发病所必需的。在最近一项研究中，发现81%的HCP患者存在PRSS1基因突变。HCP患者有发生外分泌和内分泌功能不全的风险，与普通人群相比，HCP患者患胰腺癌的风险增加了50倍。
