Sibert J R
Gut. 1975 Feb;16(2):81-8. doi: 10.1136/gut.16.2.81.
A family with hereditary pancreatitis is described. Nine family members definitely have had pancreatitis, whilst 15 more are suspected of having the disease. The condition presents as recurrent attacks of epigastric or central abdominal pain, sometimes radiating to the back, often associated with vomiting. The attacks of pain usually last three to four days. The inheritance fits well with an autosomal dominant pattern with limited penetrance, as it does in other families described in the literature. There is no aminoaciduria as has been described in some previously reported families. The attacks of pain start in childhood or young adult life (mean age of onset inthis family is 12-6 years) and appear to cease in this family by the age of 40 years. The diagnosis of pancreatitis in members of the family who have had confirmed pancreatitis was made by finding a raised serum amylase concentration in four cases, at laparotomy in four cases, and by pancreatic calcification seen on radiography in one case, The literature on the condition is reviewed, and it is speculated that the condition may have been underdiagnosed in Britain.
本文描述了一个患有遗传性胰腺炎的家族。9名家族成员确诊患有胰腺炎,另有15人疑似患病。该病表现为上腹部或中腹部反复疼痛发作,有时放射至背部,常伴有呕吐。疼痛发作通常持续三到四天。其遗传方式符合常染色体显性遗传且外显率有限的模式,与文献中描述的其他家族情况一致。该家族中未出现一些先前报道家族中所描述的氨基酸尿症。疼痛发作始于儿童期或青年期(该家族的平均发病年龄为12.6岁),在这个家族中似乎到40岁时就不再发作。已确诊患有胰腺炎的家族成员中,4例通过血清淀粉酶浓度升高确诊,4例通过剖腹手术确诊,1例通过X线检查发现胰腺钙化确诊。本文对该病的文献进行了综述,并推测在英国这种病可能未得到充分诊断。