http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
가족 SPINK1 N34S 유전자 변이가 확인된 만성 췌장염 1예
오형철 ( Hyoung Chul Oh ),이태윤 ( Tae Yoon Lee ),권승현 ( Seung Hyun Kwon ),이상수 ( Sang Soo Lee ),서동완 ( Dong Wan Seo ),이성구 ( Sung Koo Lee ),김명환 ( Myung Hwan Kim ) 대한소화기학회 2007 대한소화기학회지 Vol.49 No.6
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 inhibior, 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, IVS1-37T>C 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. (Korean J Gastroenterol 2007;49:384-389)
Rho, Eun Sam,Kim, Earl,Koh, Hong,Yoo, Han-Wook,Lee, Beom Hee,Kim, Gu-Hwan The Korean Pediatric Society 2013 Clinical and Experimental Pediatrics (CEP) Vol.56 No.5
Chronic pancreatitis is a progressive inflammatory disease resulting from repeated episodes of acute pancreatitis that impair exocrine function and eventually produce endocrine insufficiency. Some causes of chronic pancreatitis appear to be associated with alterations in the serine-protease inhibitor, Kazal type 1 (SPINK1), cationic trypsinogen (PRSS1), and cystic fibrosis-transmembrane conductance regulator (CFTR ) genes, or with structural disorders in the pancreaticobiliary ductal system, such as pancreatic divisum or anomalous pancreaticobiliary ductal union (APBDU). However, it is unusual to observe both genetic alteration and structural anomaly. Here, we report 2 cases with both APBDU and a mutation in the SPINK1 genes, and we discuss the implications of these findings in clinical practice.
노은삼,Earl Kim,고홍,유한욱,이범희,김구환 대한소아청소년과학회 2013 Clinical and Experimental Pediatrics (CEP) Vol.56 No.5
Chronic pancreatitis is a progressive inflammatory disease resulting from repeated episodes of acute pancreatitis that impair exocrine function and eventually produce endocrine insufficiency. Some causes of chronic pancreatitis appear to be associated with alterations in the serine–protease inhibitor,Kazal type 1 (SPINK1 ), cationic trypsinogen (PRSS1 ), and cystic fibrosis–transmembrane conductance regulator (CFTR ) genes, or with structural disorders in the pancreaticobiliary ductal system, such as pancreatic divisum or anomalous pancreaticobiliary ductal union (APBDU). However, it is unusual to observe both genetic alteration and structural anomaly. Here, we report 2 cases with both APBDU and a mutation in the SPINK1 genes, and we discuss the implications of these findings in clinical practice.