Hereditary pancreatitis  

作　　者：Richard M Charnley 

机构地区：[1]Consultant Surgeon,Freeman Hospital,Newcastle upon Tyne,NE7 7DN,UK

出　　处：《World Journal of Gastroenterology》2003年第1期1-4,共4页世界胃肠病学杂志（英文版）

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 expressone of two mutations (R122H or N29I) in the cationictrypsinogen gene (PRSS1 gene). It has been hypothesisedthat one of these mutations, the R122H mutation causespancreatitis by altering a trypsin recognition site sopreventing deactivation of trypsin within the pancreas andprolonging its action, resulting in autodigestion. Families withthese two mutations have been identified in many countriesand there are also other rarer mutations, which have alsobeen linked to hereditary pancreatitis.Patients with hereditary pancreatitis present in the sameway as those with sporadic pancreatitis but at an earlierage. It is common for patients to remain undiagnosed formany years, particularly ifthey present with non-specificsymptoms. Hereditary pancreatitis should always beconsidered in patients who present with recurrent pancreatitiswith a family history of pancreatic disease. If patients withthe 2 common mutations are compared, those with theR122H mutation are more likely to present at a younger ageand are more likely to require surgical intervention than thosewith N29I. Hereditary pancreatitis carries a 40 % lifetimerisk of pancreatic cancer with those patients aged between50 to 70 being most at risk in whom screening tests maybecome important.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.

关 键 词：TRYPSIN Genetic Counseling Genetic Screening Humans PANCREATITIS Point Mutation Risk Factors TRYPSINOGEN 

分 类 号：R576[医药卫生—消化系统]