OBJECTIVES Several genetic risk factors have been identified in adults with idiopathic acute recurrent pancreatitis (IARP). However, the literature regarding the genetics of IARP is sparse in children. In this study, we aimed to analyze the genetic risk factors in children with IARP. METHODS All children (< 18 years) with ARP from January 2015 to May 2018 were prospectively enrolled in the study. Children with a known cause of ARP like obstructive, toxic/metabolic, and autoimmune were excluded from the final analysis. Children with IARP underwent genetic testing for mutations/polymorphisms in genes known to predispose to pancreatitis including cationic trypsinogen protease serine 1 (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator gene (CFTR), chymotrypsin C (CTRC), claudin-2 (CLDN2) and cathepsin B (CTSB). RESULTS A total of 239 children (116 boys, 10.3 ± 3.7 years) were enrolled during the study period. Of these, 204 (85.35%) children were identified as IARP. The mean age of symptom onset and the number of pancreatitis episodes were 8.3 ± 3.7 years and 3.3 ± 1.8, respectively. A family history of pancreatitis was noted in 4.6% children. Mutations/polymorphisms in at least 1 gene were identified in 89.5% (129/144) children including SPINK1 in 41.9%, PRSS1 (rs10273639) in 58.2%, CTRC in 25.6%, CTSB in 54.9%, CLDN2 in 72.9%, and CFTR in 2.3%. There was no significant incidence of genetic mutations/polymorphisms in IARP with or without pancreas divisum (95.7 vs 88.4%; p = 0.467). CONCLUSIONS Genetic alterations are present in the majority of the children with IARP. The incidence of genetic mutations is similar in children with or without pancreas divisum.

中文翻译：

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特发性复发性急性胰腺炎患儿的遗传评估。

目的已确定成人特发性急性胰腺炎（IARP）的几种遗传危险因素。但是，有关IARP遗传学的文献在儿童中很少。在这项研究中，我们旨在分析IARP儿童的遗传危险因素。方法前瞻性纳入2015年1月至2018年5月的所有ARP儿童（<18岁）。最终分析排除了患有ARP已知原因的儿童，如阻塞性，毒性/代谢性和自身免疫性。患有IARP的儿童进行了遗传测试，以检测已知易患胰腺炎的基因中的突变/多态性，包括阳离子胰蛋白酶原蛋白酶丝氨酸1（PRSS1），丝氨酸蛋白酶抑制剂Kazal 1型（SPINK1），囊性纤维化跨膜电导率调节基因（CFTR），胰凝乳蛋白酶C（ CTRC），claudin-2（CLDN2）和组织蛋白酶B（CTSB）。结果研究期间共纳入239名儿童（116名男孩，10.3±3.7岁）。其中，有204名（85.35％）儿童被确定为IARP。症状发作的平均年龄和胰腺炎发作的次数分别为8.3±3.7岁和3.3±1.8。有4.6％的儿童有胰腺炎家族史。在89.5％（129/144）儿童中发现了至少1个基因的突变/多态性，包括SPINK1（41.9％），PRSS1（rs10273639）（58.2％），CTRC（25.6％），CTSB（54.9％），CLDN2（72.9％）和CFTR在2.3％。有或没有胰腺分裂的IARP中没有明显的遗传突变/多态性发生率（95.7 vs 88.4％； p = 0.467）。结论大多数IARP儿童存在遗传改变。