Cowles R A, Eckhauser F E, Knol J A
Division of Gastrointestinal Surgery, University of Michigan, Ann Arbor, USA.
Am Surg. 2001 Feb;67(2):182-7.
Hereditary pancreatitis is an uncommon cause of chronic pancreatitis in Western society. It should be suspected when chronic pancreatitis presents in young adults. The diagnosis is made when chronic pancreatitis is present in several members of the same family who are determined not to have other risk factors for chronic pancreatitis. Molecular research focusing on mutations in the trypsinogen gene has uncovered the genetic defects associated with hereditary pancreatitis, and this knowledge has suggested the possible pathophysiologic mechanism of this disease. Because patients with hereditary pancreatitis develop their disease early in life they are very likely to require treatment for complications. As in patients with chronic pancreatitis of other etiologies those with hereditary pancreatitis should be treated medically for acute exacerbations. When complications occur or when the disease causes intractable pain surgery is recommended. Surgical therapy is tailored to the patient's pancreatic anatomy based on endoscopic retrograde cholangiopancreatography or CT scan. The two patients described in this report underwent successful longitudinal pancreaticojejunostomy (Puestow procedure) with good results. Finally it has been shown that patients with hereditary pancreatitis are at increased risk for developing pancreatic adenocarcinoma. Although not widely used pancreatic cancer screening programs have been suggested for surveillance of these patients.
在西方社会，遗传性胰腺炎是慢性胰腺炎的一种罕见病因。当年轻成年人出现慢性胰腺炎时，应怀疑此病。当同一家族中有数名成员被确定没有其他慢性胰腺炎风险因素而出现慢性胰腺炎时，即可做出诊断。聚焦于胰蛋白酶原基因突变的分子研究揭示了与遗传性胰腺炎相关的基因缺陷，这一认识提示了该病可能的病理生理机制。由于遗传性胰腺炎患者在生命早期发病，他们很可能需要针对并发症进行治疗。与其他病因的慢性胰腺炎患者一样，遗传性胰腺炎患者的急性加重期应接受药物治疗。当出现并发症或疾病导致顽固性疼痛时，建议进行手术。手术治疗根据内镜逆行胰胆管造影或CT扫描结果，针对患者的胰腺解剖结构进行调整。本报告中描述的两名患者成功接受了纵行胰空肠吻合术（普埃斯托手术），效果良好。最后，研究表明遗传性胰腺炎患者患胰腺腺癌的风险增加。虽然尚未广泛应用，但已有人建议开展胰腺癌筛查项目来监测这些患者。
