Hereditary pancreatitis - a rare differential diagnosis in patients with menstruation-associated recurrent acute pancreatitis: a case report
Hereditary pancreatitis - a rare differential diagnosis in patients with menstruation-associated recurrent acute pancreatitis: a case report
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DOI：
10.1080/09513590310001651786
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发表时间：
2004-01-01
影响因子：
2
通讯作者：
Simon, P
中科院分区：
文献类型：
--
作者：
Heinig, J;Greb, RR;Simon, P
Hereditary pancreatitis (HP) is a rare genetic condition with an autosomal dominant inheritance pattern, characterized by recurrent episodes of pancreatic attacks that are indistinguishable from pancreatitis associated with gallstones, acute alcohol ingestion, drugs or other causes, and which can progress to chronic pancreatitis, with morphological, functional and clinical findings similar to those of the classic forms of chronic pancreatitis. The mutation was identified in the third exon of the gene that transcribes cationic trypsinogen (Protease-Serine-1 gene, PRSS-1). This mutation resulted in an arginine to histidine substitution (R122H ‘classic’mutation). In normal individuals, one of the mechanisms that prevents pancreatic autodigestion appears to involve competitive inhibition of the trypsin catalytic site by the pancreatic secretory trypsin inhibitor. This event emphasizes the role of trypsin in the activation of the pancreatic enzyme cascade, changing all of the other pancreatic proenzymes to their active form. The suggested patho-mechanism involved in the HP classic mutation and responsible for pancreatic damage is related to blocking of the physiological mechanism of intracellular trypsin antolysis which prevents pancreatic autodigestion. In short, the PSSR-1 mutation eliminates the initial hydrolysis site, thus preventing destruction of trypsin that has been prematurely activated in the pancreas and, in turn, leading to generalized zymogen activation, autodigestion and pancreatitis. The onset of attacks typically occurs within the first two decades of life, but can begin at any age. In the USA, it is estimated that at least 1000 individuals are affected by hereditary pancreatitis. Treating the symptoms associated with HP is the method of medical management. Pancreatic enzyme supplements are introduced to treat maldigestion, insulin is used to treat diabetes, analgesics and narcotics are used to control pain, and lifestyle changes are recommended to reduce the risk of pancreatic cancer. Individuals with either the R117H or the N21I mutation have an 80% risk of developing symptoms of HP over their lifetime. In addition, there is a great deal of variability in the frequency and severity of pancreatic attacks. Some affected relatives may only have a few episodes of pain, while others in the same family experience more
