Dept. of Digestive and Liver Disease, II School of Medicine, University La Sapienza, Rome, Italy.
BMC Gastroenterol. 2010 Oct 15;10:119. doi: 10.1186/1471-230X-10-119.
acute recurrent pancreatitis is a complex multigenic disease, the diagnosis is even more difficult when this disease develops in a child.
a 6-years old boy, hospitalized with epigastric pain radiating to the back showed high serum levels of serum amylase, lipase, CRP and erythrosedimentation rate. Several similar milder episodes of pain, followed by quick recovery and complete disappearance of symptoms were reported during the previous 13 months. The child was medically treated and after 7 days with normal clinic and laboratory tests was discharged with a hypolipidic diet. All the known aetiologic hypotheses were excluded by anamnestic investigation, clinical observation and biochemical evaluation, whereas, anatomic abnormality were excluded by a secretin stimulated magnetic resonance (MRI). At the last follow-up visit, (11 months later), the child showed a normal body weight and anthropometric profile, without further abdominal pain. Mutation screening for coding regions of PRSS1, SPINK1, CFTR and the new hereditary pancreatitis-associated chymotrypsin C (CTRC) genes showed a novel variation, c.541A > G (p.S181G), in the exon 4 of PRSS1 gene and the classical CF p.F508del mutation in the CFTR. Both mutations were present in his clinically normal mother and absent in the patient's father.
this report extend the spectrum of PRSS1 mutations, however, the absence of family history of pancreatitis leaves the present case without the hallmark of the hereditary origin of pancreatitis. At the present knowledge it can be only stated that the combined genotype CFTR (F508del)/PRSS1 (S181G) is associated to a mild phenotype of acute recurrent pancreatitis in this child without any further conclusion on its pathogenetic role or prediction on the course of the disease.
急性复发性胰腺炎是一种复杂的多基因疾病，当这种疾病发生在儿童身上时，诊断更为困难。
一名 6 岁男孩，因上腹痛放射至背部住院，血清淀粉酶、脂肪酶、C 反应蛋白和红细胞沉降率水平升高。在之前的 13 个月中，曾有几次类似的较轻发作，随后迅速恢复，症状完全消失。患儿接受了药物治疗，7 天后临床和实验室检查正常出院，给予低脂饮食。通过病史调查、临床观察和生化评估排除了所有已知的病因假说，通过促胰液素刺激磁共振成像（MRI）排除了解剖异常。在最后一次随访（11 个月后）时，患儿体重和人体测量学特征正常，无进一步腹痛。PRSS1、SPINK1、CFTR 基因编码区和新的遗传性胰腺炎相关糜蛋白酶 C（CTRC）基因突变筛查显示 PRSS1 基因外显子 4 中存在新的变异 c.541A > G（p.S181G），CFTR 中存在经典 CF p.F508del 突变。这两种突变均存在于其临床正常的母亲中，而患儿的父亲则没有。
本报告扩展了 PRSS1 基因突变谱，但无胰腺炎家族史使目前的病例缺乏遗传性胰腺炎的典型特征。根据目前的知识，只能说明 CFTR（F508del）/PRSS1（S181G）的联合基因型与该患儿急性复发性胰腺炎的轻度表型有关，而不能进一步确定其发病机制作用或预测疾病的病程。
