Cationic Trypsinogen N29I 유전자 변이에 의한 유전 췌장염 1례

Hereditary pancreatitis is an autosomal dominant disease characterized by recurrent episodes of pancreatitis, often beginning in childhood, with a positive family history involving at least two other affected family members with no known other precipitating factors. Most forms of hereditary pancreatitis are caused by one of two common mutations, i.e., R122H in exon 3 and N29I in exon 2 of the cationic trypsinogen (CT) (PRSS1) gene, located on chromosome 7. The authors describe the case of a 15-year-old boy who had suffered from recurrent attacks of pancreatitis since age three. His mother and grandmother had chronic pancreatitis and diabetes mellitus. Mutation analysis was performed on the family due to the suspicion of hereditary pancreatitis. The CT gene was analyzed in DNA samples extracted from the peripheral blood of three family members, the mother, the proband, and the proband's sister. Two members of the family, the mother and the proband, were found to have a N29I mutation in the CT gene. The authors document the first family with hereditary pancreatitis associated with the N29I mutation in Korea. 유전성 췌장염은 비교적 젊은 연령에서 다른 이유 없이 반복적으로 급성 췌장염으로 나타나는데 나이가 들면서 만성 췌장염으로 이행된다. 동일 가계 내에 2세대 이상에 걸쳐서 3명 이상의 췌장염 환자가 있을 때 진단이 가능하며 이와 관련된 유전자로 trypsinogen을 만드는 PRSS1 유전자 변이(R122H, N29I)가 가장 대표적으로 알려져 있다. 저자들은 3세부터 반복적인 췌장염으로 입원 치료를 했던 15세 환아와 반복적 췌장염을 앓은 환아모, 환아 동생을 대상으로 CT 유전자의 exon 2, 3의 염기 서열을 분석하여 환아와 환아모에서 국내 처음으로 N29I 변이를 경험하였기에 보고하는 바이다.