医学
凝血病
凝血酶原时间
凝血障碍
凝结
蛇毒
桑格测序
胃肠病学
突变
内科学
遗传学
毒液
基因
生物
生物化学
作者
Chuanghua Qiu,Huang Chunxiu,Xueyan Chen,Dayong Gu
出处
期刊:Labmedicine
[Oxford University Press]
日期:2024-01-30
卷期号:55 (5): 645-648
标识
DOI:10.1093/labmed/lmae012
摘要
Abstract 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.
科研通智能强力驱动
Strongly Powered by AbleSci AI