저자들은 만성췌장염으로 췌관결석이 합병되어 Puestow-Gillesby 췌관 공장 측측변형 문합술을 시행 받은 14 세 환아와 합병증이 발생하지 않은 만성췌장염을 앓고 있는 13세의 환아의 여자형제, 췌장암으로 사망한 외삼촌과 만성췌장염으로 배액술을 받은 26세 사촌언니를 가진 유전성 췌장염한 가계를 경험하였다. 또한 이들을 대상으로 유전자를 검사하여 R122H 변이를 관찰하였기에 보고하는 바이다.
Hereditary pancreatitis (HP) appears as an autosomal dominant trait. If the patient has (1) more than 2 affected relatives in different generations and (2) no known etiological factors such as alcohol or gallstones, or has R122H or N29I mutation in the cationic trypsinogen (CT) gene, the diagnosis of HP can be applied. Risk of pancreatic cancer is estimated to be 53-fold higher than in a general population after the age of 50 years. We report a kindredof HP, involving three of its family together; two siblings (14 years old, 13 years old) and cousin (26 years old). The patient had complicating chronic pancreatitis and pancreatic stone, and was treated with amodified Puestow-Gillesby procedure. Her sisters showed chronic pancreatitis. Her cousin underwent a drainage procedure of the pancreatic duct for chronic pancreatitis during the high school period. All the three members showed the R122H mutation of the CT gene.
