在被竹叶青蛇咬伤后,鉴定出遗传性人类凝血因子 VII 缺乏症的新型复合杂合突变。

Chuanghua Qiu, Chunxiu Huang, Xueyan Chen, Dayong Gu
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引用次数: 0

摘要

遗传性因子 VII(FVII)缺乏症是一种不常见的常染色体隐性遗传疾病,与 F7 基因的突变有关,实验室检查通常会发现凝血酶原时间(PT)/国际标准化比值(INR)的个别延长。毒液诱发的消耗性凝血病(VICC)是由蛇毒中的促凝血毒素引发的凝血途径活化所致。诊断遗传性 FVII 缺乏症患者的蛇咬伤是一项挑战,因为 PT/INR 延长时间被认为是 VICC 最有价值的诊断方法。因此,某些患者可能无法及时得到遗传性 FVII 缺乏症的准确诊断。我们介绍了一个具有遗传性 FVII 缺乏症的血统,该患者是在被竹叶青蛇咬伤后通过桑格测序确诊的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The identification of a novel compound heterozygous mutation in hereditary human coagulation factor VII deficiency following a bamboo leaf green snake bite.

Hereditary factor VII (FVII) deficiency is an uncommon autosomal recessive disorder associated with mutations in the F7 gene, and laboratory investigations usually reveal isolated prolongation in prothrombin time (PT)/international normalized ratio (INR). Venom-induced consumptive coagulopathy (VICC) is distinguished by the activation of the coagulation pathway, which is triggered by procoagulant toxins in snake venom. Diagnosing snakebites in patients with hereditary FVII deficiency presents a challenge because prolonged time PT/INR is considered the most valuable diagnostic method for VICC. Therefore, it is possible that certain patients may not promptly receive an accurate diagnosis of hereditary FVII deficiency. We present a pedigree featuring hereditary FVII deficiency, which was diagnosed through Sanger sequencing, following a bamboo leaf green snake bite.

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