遗传性胰腺炎临床和遗传特点分析13例

Clinical and hereditary characteristics of hereditary pancreatitis: an analysis of 13 cases

目的:研究遗传性胰腺炎(hereditary pan-creatitis,HP)的临床表现和遗传特征.方法:回顾性分析3个家系的10例HP患者和3例散发病例的临床资料并随访观察.结果:3个家系的HP患者起病年龄为8-46岁(平均23.8)岁,<20岁起病7例,>20岁起病3例,以胰蛋白酶原基因(protease serine 1,PRSS1)突变多见.临床表现复杂多样,反复腹痛是该病的重要体征,为常染色体显性遗传.散发病例起病年龄均>25岁.其中1个两代成员发病的家系中,均有随代数延续、发病年龄提前的现象.结论:遗传性胰腺炎具有临床异质性、遗传异质性及遗传早现的特征.

AIM： To study the clinical manifestations and genetic characterisitcs of hereditary pancreatitis （HV）. METHODS： We retrospectively reviewed the clinical data of 13 HP patients （10 from 3 families, and 3 sporadic cases）. RESULTS： The ages of the 10 patients from 3 families ranged from 8 to 48 years old （7 cases less than 20 years old and 3 cases more than 20 years old）, and the mutation of protease serine 1 （PRSS1） gene occurred frequently. The clinical manifestations were various and recurrent ab-dominal pain was an important sign. Dominant heredity was the genetic character, and HP occurred earlier in the next generation. The 3 sporadic cases were all above 25 years old. CONCLUSION： HP has various clinical manifestations and genetic anticipation characteristic.