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Hereditary pancreatitis

机译：遗传性胰腺炎

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摘要

Hereditary pancreatitis is an autosomal dominant condition, which results in recurrent attacks of acute pancreatitis, progressing to chronic pancreatitis often at a young age. The majority of patients with hereditary pancreatitis express one of two mutations (R122H or N29I) in the cationic trypsinogen gene (PRSS1 gene). It has been hypothesised that one of these mutations, the R122H mutation causes pancreatitis by altering a trypsin recognition site so preventing deactivation of trypsin within the pancreas and prolonging its action, resulting in autodigestion. Families with these two mutations have been identified in many countries and there are also other rarer mutations, which have also been linked to hereditary pancreatitis. Patients with hereditary pancreatitis present in the same way as those with sporadic pancreatitis but at an earlier age. It is common for patients to remain undiagnosed for many years, particularly if they present with non-specific symptoms. Hereditary pancreatitis should always be considered in patients who present with recurrent pancreatitis with a family history of pancreatic disease. If patients with the 2 common mutations are compared, those with the R122H mutation are more likely to present at a younger age and are more likely to require surgical intervention than those with N29I. Hereditary pancreatitis carries a 40% lifetime risk of pancreatic cancer with those patients aged between 50 to 70 being most at risk in whom screening tests may become important.
机译：遗传性胰腺炎是常染色体显性疾病，可导致急性胰腺炎反复发作，并常常在年轻时发展为慢性胰腺炎。大多数遗传性胰腺炎患者在阳离子胰蛋白酶原基因（PRSS1基因）中表达两个突变之一（R122H或N29I）。假设R122H突变是这些突变之一，它通过改变胰蛋白酶识别位点而引起胰腺炎，从而防止胰蛋白酶在胰腺内失活并延长其作用，从而导致自身消化。在许多国家中已经鉴定出具有这两种突变的家庭，并且还有其他罕见的突变，这些突变也与遗传性胰腺炎有关。遗传性胰腺炎的患者表现与散发性胰腺炎的患者相同，但年龄较早。患者多年未得到诊断是很常见的，特别是如果患者表现出非特异性症状时。患有胰腺疾病家族史的复发性胰腺炎患者应始终考虑遗传性胰腺炎。如果比较具有两种常见突变的患者，则与具有N29I的患者相比，具有R122H突变的患者更容易出现在年轻年龄，并且更有可能需要手术干预。遗传性胰腺炎终生罹患胰腺癌的风险为40％，其中年龄在50至70岁之间的患者中，筛查测试可能变得非常重要。

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  • 来源
    《World Journal of Gastroenterology》 |2003年第1期|p.1-4|共4页
  • 作者

    Richard M Charnley;

  • 作者单位

    Freeman Hospital, Newcastle upon Tyne, NE7 7DN, UK;

  • 收录信息 美国《科学引文索引》(SCI);美国《工程索引》(EI);美国《生物学医学文摘》(MEDLINE);美国《化学文摘》(CA);
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 消化系及腹部疾病;
  • 关键词

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