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基于二代基因测序诊断罕见突变位点的遗传性胰腺炎一例
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- Author:
- No author available
- Journal Title:
- Chinese Journal of Pancreatology
- Issue:
- 5
- DOI:
- 10.3760/cma.j.cn115667-20190523-00040
- Key Word:
- 遗传性胰腺炎;囊性纤维化跨膜转导调节因子;基因突变;二代测序
Abstract： 遗传性胰腺炎(hereditary pancreatitis)为临床急性或复发性胰腺炎的少见病因，本文1例反复发作3次急性胰腺炎的青年女性患者，在其囊性纤维化跨膜转导调节因子(CFTR)基因上发现一处c.374T>C杂合变异，临床表现为血脂肪酶明显升高。临床实践中对于年轻的反复发作急性胰腺炎或者慢性胰腺炎的患者，即便没有家族史可循，也应考虑到遗传性胰腺炎，二代基因测序检测可帮助诊断。
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