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<p>Hereditary pancreatitis is a&#xa0;rare disease and is mainly due to mutations in the <i>serine protease&#xa0;1</i> (<i>PRSS1</i>) gene which encodes the protein cationic trypsinogen and is inherited in an autosomal dominant manner with high penetrance. There are many other variants of genes encoding for proteins expressed in acinar and ductal cells that predispose to chronic pancreatitis either in combination with other genetic factors, anatomical features or certain environmental factors. These susceptibility genes are considered as causative factors in a&#xa0;significant number of idiopathic chronic pancreatitis patients. The main underlying pathophysiological mechanisms leading to pancreatitis are increased activation of digestive enzymes due to an imbalance between digestive enzyme activation and inhibition, increased endoplasmic reticulum (ER) stress and a&#xa0;defective bicarbonate secretion. Genetic testing should be considered in individuals with unexplained acute recurrent or chronic pancreatitis and a&#xa0;familial clustering of pancreatitis. An adequate genetic counselling is essential for these individuals.</p>

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Hereditäre Pankreatitis

  • 期刊论文

  • 发表日期：

    2025年6月19日

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  • Francesco Vitali,
  • Ali A. Aghdassi

摘要

Hereditary pancreatitis is a rare disease and is mainly due to mutations in the serine protease 1 (PRSS1) gene which encodes the protein cationic trypsinogen and is inherited in an autosomal dominant manner with high penetrance. There are many other variants of genes encoding for proteins expressed in acinar and ductal cells that predispose to chronic pancreatitis either in combination with other genetic factors, anatomical features or certain environmental factors. These susceptibility genes are considered as causative factors in a significant number of idiopathic chronic pancreatitis patients. The main underlying pathophysiological mechanisms leading to pancreatitis are increased activation of digestive enzymes due to an imbalance between digestive enzyme activation and inhibition, increased endoplasmic reticulum (ER) stress and a defective bicarbonate secretion. Genetic testing should be considered in individuals with unexplained acute recurrent or chronic pancreatitis and a familial clustering of pancreatitis. An adequate genetic counselling is essential for these individuals.