동일 가계 내 두 세대 구성원에서 발현된 Cationic Trypsinogen 유전자 R122H 변이에 의한 유전 췌장염 3예Three Cases of Hereditary Pancreatitis in Two Households in the Same Family Associated with R122H Mutation in Cationic Trypsinogen Gene
- Authors
- 이태윤; 오형철; 김명환; 권승현; 이상수; 서동완; 이성구
- Issue Date
- Jun-2007
- Publisher
- 대한소화기학회
- Keywords
- Pancreatitis; Hereditary; Cationic trypsinogen gene
- Citation
- 대한소화기학회지, v.49, no.6, pp 395 - 399
- Pages
- 5
- Journal Title
- 대한소화기학회지
- Volume
- 49
- Number
- 6
- Start Page
- 395
- End Page
- 399
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/29995
- ISSN
- 1598-9992
2233-6869
- Abstract
- Hereditary pancreatitis is a rare, autosomal dominant, inherited disease characterized by recurrent attacks of acute pancreatitis with the development of chronic pancreatitis and an increased risk of pancreatic cancer. R122H or N29I mutation in cationic trypsinogen (protease serine 1, PRSS1) gene causes hereditary pancreatitis. R122H mutation is the most common mutation that causes pancreatitis by preventing deactivation of trypsin within the pancreas and prolonging its action. Three members of the family, the patient, her elder son, and her niece experienced recurrent attacks of pancreatitis. We analyzed five exons of the PRSS1 gene in DNA samples of five family members including her husband and younger son who were asymptomatic. We found out that four members of the family, the patient, her two sons, and her niece, had R122H mutation in the exon 3 of PRSS1 gene. Finally, we diagnosed hereditary pancreatitis in two households in the same family. (Korean J Gastroenterol 2007;49:395-399)
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