Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East.
Genetic Background and Clinical Characters of Pediatric Chronic Pancreatitis: Data and Implications from the East.
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小儿慢性胰腺炎的遗传背景和临床特征：来自东方的数据和启示
DOI：
10.1155/2017/7548753
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发表时间：
2017
影响因子：
2
通讯作者：
Li Z
中科院分区：
文献类型：
--
作者：
Liu M;Xia T;Zhang D;Hu L;Liao Z;Sun C;Li Z
背景。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。方法。对73例中国青少年ICP患者进行回顾性研究，采用直接测序技术和高分辨率熔融技术进行基因检测，检测相关突变。无胰腺炎的受试者作为对照。结果。青少年和成人ICP患者中分别有56.16%和42.00%存在SPINK1 C .194+2T>C变异（p = 0.020），而对照组中未发现SPINK1 C .194+2T>C变异。73例青少年ICP患者中男性34例（46.58%），成年组男性患者比例显著高于男性（46.58% vs 64.00%, p = 0.022）。虽然大多数青少年患者表现为腹痛（70/73,95.89%），但携带或不携带SPINK1 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容易出现复发性急性胰腺炎（70.70%）。结论。小儿颅内压的主要症状为腹痛。SPINK1 C .194+2T>C突变在青少年ICP患者中的发生率高于成年组，典型表现为复发性急性胰腺炎。成年男性ICP发病率较高的原因可能存在未知因素。
Background. The clinical pattern and genetic background of juvenile idiopathic chronic pancreatitis (ICP) are yet unclear. Methods. 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. Results. The SPINK1 c.194+2T>C variant was present in 56.16% and 42.00% of juvenile and adult ICP patients, respectively (p = 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%, p = 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%). Conclusions. 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.