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儿童慢性胰腺炎的遗传背景与临床特征:来自东方的数据及启示

Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East.

作者信息

Liu Muyun, Xia Tian, Zhang Di, Hu Lianghao, Liao Zhuan, Sun Chang, Li Zhaoshen

机构信息

Department of Gastroenterology, Changhai Hospital, Second Military Medical University, Shanghai, China.

出版信息

Gastroenterol Res Pract. 2017;2017:7548753. doi: 10.1155/2017/7548753. Epub 2017 Feb 28.

Abstract

The clinical pattern and genetic background of juvenile idiopathic chronic pancreatitis (ICP) are yet unclear. . A retrospective study of 73 Chinese juvenile ICP patients was performed, and genetic tests were carried out to detect relevant mutations using direct sequencing technique and high-resolution melting technique. Subjects without pancreatitis served as controls. The SPINK1 c.194+2T>C variant was present in 56.16% and 42.00% of juvenile and adult ICP patients, respectively ( = 0.020), but was not present in any of the control subjects. Thirty-four (46.58%) of the 73 juvenile ICP patients were male, and a significantly higher ratio of male patients in the adult group was identified (46.58% versus 64.00%, = 0.022). Although most of the juvenile patients presented with abdominal pain (70/73, 95.89%), the patterns of pain attack are significantly different in patients with or without SPINK1 c.194+2T>C mutation. Patients carrying the mutation are more likely to present with recurrent acute pancreatitis (70.70%). The main symptom of pediatric ICP was abdominal pain. SPINK1 c.194+2T>C mutation had a higher occurrence in juvenile ICP patients than in adult group and typically presented with recurrent acute pancreatitis. There may be unidentified factors that lead to a greater incidence rate of ICP in adult male population.

摘要

青少年特发性慢性胰腺炎(ICP)的临床模式和遗传背景尚不清楚。对73例中国青少年ICP患者进行了回顾性研究,并采用直接测序技术和高分辨率熔解技术进行基因检测以检测相关突变。无胰腺炎的受试者作为对照。SPINK1基因c.194+2T>C变异分别在青少年和成人ICP患者中占56.16%和42.00%(P = 0.020),但在任何对照受试者中均未出现。73例青少年ICP患者中有34例(46.58%)为男性,成人组男性患者比例显著更高(46.58%对64.00%,P = 0.022)。虽然大多数青少年患者表现为腹痛(70/73,95.89%),但有或无SPINK1基因c.194+2T>C突变的患者疼痛发作模式有显著差异。携带该突变的患者更易出现复发性急性胰腺炎(70.70%)。小儿ICP的主要症状是腹痛。SPINK1基因c.194+2T>C突变在青少年ICP患者中的发生率高于成人组,且通常表现为复发性急性胰腺炎。可能存在未明因素导致成人男性人群中ICP发病率更高。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ae7/5350339/6bb095ab240c/GRP2017-7548753.001.jpg

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