Abstract：
Several pancreatitis-related genetic variants have been identified. Recently, the association of loss-of-function variants in the transient receptor potential cation channel subfamily V member 6 (TRPV6) gene and early-onset non-alcoholic chronic pancreatitis (CP) has been reported. However, detailed clinical presentation of the cases carrying TRPV6 variants remains largely unknown. We report a case of early CP carrying a TRPV6 variant in which recurrent attacks of pancreatitis were successfully managed by pancreatic duct stenting. A 12-year-old boy with CP was referred to our hospital for further investigation. He had experienced recurrent pancreatitis attacks since he was 11 years old. Pancreatic ductal anomalies were not identified on magnetic resonance cholangiopancreatography. Genetic analysis revealed that the patient had a loss-of-function TRPV6 c.1448G > A (p.R483Q) variant in a heterozygous form. Conservative treatments were not effective; thus, we placed pancreatic duct stent by endoscopic intervention, and the frequency of relapses have dramatically decreased. We present the first pediatric report of early CP associated with the TRPV6 variant that was successfully treated with pancreatic duct stenting. This case suggests that pancreatic duct stenting is effective in preventing the relapse of pancreatitis related to the TRPV6 variant.
摘要：
已经鉴定了几种与胰腺炎相关的遗传变异。最近,已经报道了瞬时受体电位阳离子通道亚家族V成员6(TRPV6)基因中的功能丧失变异体与早发性非酒精性慢性胰腺炎(CP)的相关性.然而,携带TRPV6变异体的病例的详细临床表现仍在很大程度上未知.我们报告了一例携带TRPV6变体的早期CP，其中通过胰管支架术成功控制了胰腺炎的反复发作。一名患有CP的12岁男孩被转诊到我们医院进行进一步调查。自11岁以来，他经历了复发性胰腺炎发作。磁共振胰胆管造影未发现胰腺导管异常。遗传分析显示，该患者的功能丧失TRPV6c.1448G>A（p。杂合形式的R483Q）变体。保守治疗无效；因此，我们通过内镜介入放置胰管支架,复发的频率急剧下降。我们提出了第一个与TRPV6变异相关的早期CP的儿科报告，该报告已通过胰管支架成功治疗。该病例表明胰管支架置入术可有效预防与TRPV6变异相关的胰腺炎复发。
