[SPINK1 N34S mutation as a possible cause of chronic pancreatitis in a patient with familial background].
New insight in the field of chronic pancreatitis was provided by the discovery of protease serine 1 (PRSS1) mutation, inherited by autosomal dominant trait in hereditary pancreatitis. Serine protease inhibitor, Kazal type 1 (SPINK1) is a potent protease inhibitor which prevents premature intrapancreatic activation of trypsin and pancreatic autodigestion. Strong associations of SPINK1 mutation and different forms of pancreatitis were suggested. However, it is unlikely that SPINK1 mutation alone can cause chronic pancreatitis. This mutation acts as a disease-modifier or plays a role within polygenic or multifactorial models. A 23 year-old young woman with chronic pancreatitis was recently discovered to have SPINK1 N34S heterozygous mutation cosegregated with two intronic mutations, IVS1-37TC and IVS3-69insTTTT, during the evaluation for potential cause of chronic idiopathic pancreatitis. The same mutation was identified in her mother. This is the first report in Korea suggesting that SPINK1 mutation would be a possible cause of chronic pancreatitis in a patient with familial background.
Oh
Hyoung-Chul
HC
Department of Gastroenterology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Lee
Tae Yoon
TY
Kwon
Seunghyun
S
Lee
Sang Soo
SS
Seo
Dong-Wan
DW
Lee
Sung Koo
SK
Kim
Myung-Hwan
MH
D000328:Adult; D019943:Amino Acid Substitution; D002352:Carrier Proteins / Q000235:genetics*; D002760:Cholangiopancreatography, Endoscopic Retrograde; D005190:Family; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000175:diagnosis* / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed; D014359:Trypsin Inhibitor, Kazal Pancreatic
D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic