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天冬酰胺酶相关性胰腺炎与ULK2基因多态性的关联

Association of asparaginase-associated pancreatitis and ULK2 gene polymorphism.

作者信息

Wang Juxiang, Cheng Shengqin, Hu Linglong, Huang Tingting, Huang Zhen, Hu Shaoyan

机构信息

Department of Hematology and Oncology, The Children's Hospital of Soochow University Suzhou, China.

Department of Hematology and Oncology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University Wenzhou, China.

出版信息

Int J Clin Exp Pathol. 2020 Mar 1;13(3):347-356. eCollection 2020.

Abstract

The purpose of the study was to analyze the clinical characteristics and the course of diagnosis and therapy of asparaginase-associated pancreatitis (AAP) in childhood, improve the ability of diagnosis and treatment, and evaluate ULK2 gene polymorphism as a predictive factor for AAP. Data of 12 patients with childhood AAP were reviewed. Sanger sequencing of ULK2 gene was performed in AAP group (n=12) and control group (n=146). The main symptoms of AAP were abdominal pain and vomiting. Generally, the levels of amylase and lipase in the serum peaked within 72 h. Abdominal ultrasonography was performed in 11 patients; seven patients exhibited findings of pancreatic enlargement. Computed tomography was performed in 9 patients. Five patients exhibited findings of pancreatic enlargement and peri-pancreatic exudation. All patients were managed by fasting at the early stage, and seven patients underwent placement of a nasojejunal tube to receive enteral nutrition. One patient underwent endoscopic retrograde cholangiopancreatography (revealing dilation of the pancreatic duct) and endoscopic retrograde pancreatic drainage. Another patient developed signs of shock and received continuous renal replacement. There were no deaths caused by AAP. Therefore, early identification of patients at risk of AAP is of great importance. In addition, repeated elevation in the levels of pancreatic enzymes is indicative of complications. Sanger sequencing analysis of ULK2 gene showed that there was a significant difference of EXON1: -493C>T and EXON1: -308C>G between the AAP group and control group (P<0.0001). Thus, ULK2 gene polymorphism may be associated with the development of AAP. However, more validation of this finding is needed.

摘要

本研究旨在分析儿童期天冬酰胺酶相关性胰腺炎(AAP)的临床特征及诊治过程,提高诊治能力,并评估ULK2基因多态性作为AAP预测因素的作用。回顾了12例儿童AAP患者的数据。对AAP组(n = 12)和对照组(n = 146)进行了ULK2基因的桑格测序。AAP的主要症状为腹痛和呕吐。一般来说,血清淀粉酶和脂肪酶水平在72小时内达到峰值。11例患者进行了腹部超声检查;7例患者表现出胰腺肿大。9例患者进行了计算机断层扫描。5例患者表现出胰腺肿大和胰腺周围渗出。所有患者早期均通过禁食处理,7例患者放置鼻空肠管接受肠内营养。1例患者接受了内镜逆行胰胆管造影(显示胰管扩张)和内镜逆行胰管引流。另1例患者出现休克体征并接受了连续性肾脏替代治疗。无AAP导致的死亡病例。因此,早期识别有AAP风险的患者非常重要。此外,胰腺酶水平反复升高提示并发症。ULK2基因的桑格测序分析显示,AAP组与对照组之间EXON1: -493C>T和EXON1: -308C>G存在显著差异(P<0.0001)。因此,ULK2基因多态性可能与AAP的发生有关。然而,这一发现需要更多验证。

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