A case of genetic etiology of acute pancreatitis in a lebanese pediatric patient

Chronic pancreatitis is an inflammatory condition that needs investigation in order to find and potentially treat the underlying cause since recurrent and chronic pancreatitis can lead to irreversible pancreatic damage or even pancreatic cancer. Hereditary pancreatitis are chronic pancreatitis or recurrent acute pancreatitis that are related to gene mutations. It is an autosomal disease, with a variable expression and a penetrance that is around 80%. (6) The mutations of gene PRSS 1 (serine protease 1) which induce activation of cationic trypsinogen gene are an example of genetic cause of pancreatitis. The most frequent mutation is the mutation that leads to the replacement of arginine with Histidine (1). Also the loss-of-function PRSS1 promoter variants seems to be a protective factor against pancreatitis. On the other side a gain of function of PRSS1 promoter variants seems to predispose to pancreatitis by increasing the expression of the gene PRSS1. So, this gene plays a role in the physiopathology of many hereditary pancreatitis. (3). CFTR (cystic fibrosis transmembrane conductance regulator), and SPINK1(the serine protease inhibitor Kazal type 1) are also other genes that seem to be implicated in the physiopathology of hereditary pancreatitis(2). A chart review has shown that mutation in those genes is seen in 33.3% of patients with acute recurrent pancreatitis or chronic pancreatitis. (4). Also the link between CFTR, PRSS1 and SPINK 1 and chronic or acute recurrent pancreatitis was shown in a pediatric Chinesestudy that has also shown a higher incidence of pancreatic stones related to the SPINK 1 mutation.(5) Hereditary pancreatitis need to be diagnosed since it can lead to pancreatic cancer several decades after the initial episode of pancreatitis. Also A paternal inheritance pattern seems to increase the risk of developing pancreatic cancer (6). There was no difference between the mutation type and the clinical or morphological characteristics of the pancreatitis. It was also seen that pancreatic adenocarcinoma is the cause of death in nearly 50% of the cases(7).Also, a study has compared the clinical course of chronic non hereditary pancreatitis and hereditary pancreatitis and the results have shown that clinical presentation of pediatric patients with hereditary pancreatitis is significantly more severe than pancreatitis due to other causes (8). Despite the fact that hereditary pancreatitis is a rare disease its prevalence seems to be higherin African American patients when compared to European patients (9). The prevalence of hereditary pancreatitis in some country like Lebanon is not clearly defined because there is lack of case reports that describe this pathology when encountered. In our case report, we described a case of pediatric hereditarypancreatitis encountered in a Lebanese hospital.