Malik S A, Van Kley H, Knight W A
Am J Dig Dis. 1977 Nov;22(11):999-1004. doi: 10.1007/BF01076200.
Definite inherited defect in hereditary pancreatitis (HP) is not known. A new kindred with 3 definite and 6 suspected cases of HP was investigated for possible inherited abnormalities. No aminoaciduria (except for a slight rise in urinary histidine in one patient) and no hyperparathyroidism, hyperlipidemia, or chromosomal abnormality was present. An increase in serum IgM level of a polyclonal type was noted in 3 definitely affected sisters and also in 2 nonaffected members. Serum alpha-1-antitrypsin and serum trypsin inhibition were normal. However, very marked dilatation and ectasia of the pancreatic duct were found in the propositus. Reviewing the data from this family and previously described kindreds, it is postulated that the genetic abnormality in HP encompasses a wide variety of structural and anatomical defects in the sphincter of Oddi or the pancreatic ductal system. These predispose to intermittent obstruction of the duct with concomitant activation of enzymes and ductal metaplasia. In suspected cases an early effort should be made to outline the pancreatic duct as the defect may be amenable to surgery.
遗传性胰腺炎（HP）的确切遗传缺陷尚不清楚。对一个有3例确诊和6例疑似HP病例的新家族进行了调查，以寻找可能的遗传异常。未发现氨基酸尿症（除1例患者尿组氨酸略有升高外），也未发现甲状旁腺功能亢进、高脂血症或染色体异常。在3例确诊患病的姐妹以及2例未患病成员中，均发现多克隆型血清IgM水平升高。血清α-1-抗胰蛋白酶和血清胰蛋白酶抑制作用正常。然而在该家族中发现先证者胰管有非常明显的扩张和扩张。回顾该家族及先前描述的家族的数据后推测，HP中的遗传异常包括奥迪括约肌或胰管系统的多种结构和解剖缺陷。这些缺陷易导致导管间歇性阻塞，同时激活酶并引起导管化生。在疑似病例中，应尽早努力勾勒出胰管情况，因为该缺陷可能适合手术治疗。
