术前评估显示罕见凝血因子缺乏

Tabat Meryem
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引用次数: 0

摘要

体质因子II缺乏症是一种罕见的凝血障碍。常染色体隐性形式估计患病率为1- 200万。临床症状取决于因子II缺乏率。我们报告一个偶然发现的孤立的因子II缺乏症在一个9岁的1级近亲父母的女孩,在术前评估她的大量心包积液引流,生物学评估显示因子II率<1%,凝血酶原率3%,TCA;120秒内,其他凝血因子用量均无异常。通过这一观察,我们回顾了这种缺陷的罕见性,并在面对近亲父母的新生儿异常出血时思考了这一点,以及与国际登记处合作建立规范化诊断和治疗指南的必要性。关键词:因子II;先天性出血性疾病;罕见凝血因子缺乏缩写:FFP:新鲜冷冻血浆
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Preoperative Evaluation Revealing a Rare Coagulation Factor Deficiency
Constitutional factor II deficiency is a rare coagulation disorder. The autosomal recessive form has an estimated prevalence of 1-2 million. Clinical symptoms depend on the rate of factor II deficiency. We report a fortuitous discovery of an isolated factor II deficiency in a 9-year-old girl of 1st degree consanguineous parents, following a preoperative assessment of drainage of her abundant pericardial effusion, the biological assessment showed a factor II rate < 1%, a prothrombin rate at 3% and a TCA > 120 sec, the dosage of the other coagulation factors are without anomalies. Through this observation we recall the rarity of this deficit and thought about it in the face of unusual bleeding in newborns of consanguineous parents, as well as the necessity of collaboration with international registries to establish codified diagnostic and therapeutic guidelines. Keywords: Factor II; Congenital Hemorrhagic Diseases; Rare Coagulation Factor Deficiency Abbreviations: FFP: Fresh Frozen Plasma
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