Ouerradi Nourelhouda, Ayad Ghannam, Elouali Aziza, Babakhouya Abdeladim, Rkain Maria
Pediatrics and Child Health, Mohammed VIth University Hospital, Mohammed 1st University Faculty of Medicine and Pharmacy of Oujda, Oujda, MAR.
Pediatric Gastroenterology, Mohammed VIth University Hospital, Mohammed 1st University Faculty of Medicine and Pharmacy of Oujda, Oujda, MAR.
Cureus. 2024 Aug 29;16(8):e68133. doi: 10.7759/cureus.68133. eCollection 2024 Aug.
Congenital Factor VII (FVII) deficiency is a rare autosomal recessive disorder with a prevalence of approximately 1:500,000. It plays a crucial role in initiating coagulation by activating Factors IX and X. Diagnosis typically involves prolonged prothrombin time (PT) and varies widely in clinical presentation. Management includes fresh frozen plasma (FFP), prothrombin complex concentrates (PCC), and recombinant activated FVII (rFVIIa), with rFVIIa often preferred due to its safety and efficacy. We present two pediatric cases: a five-year-old boy with a prolonged PT at 55% and FVII levels at 25.1%, and a two-year-old boy with a PT at 24% and FVII levels at 4.6%. Both cases highlight the importance of thorough hemostatic evaluation and tailored management strategies in FVII deficiency.
先天性凝血因子 VII(FVII)缺乏症是一种罕见的常染色体隐性疾病,发病率约为 1:500,000。它通过激活因子 IX 和 X 在启动凝血过程中起关键作用。诊断通常涉及凝血酶原时间(PT)延长,临床表现差异很大。治疗方法包括新鲜冷冻血浆(FFP)、凝血酶原复合物浓缩剂(PCC)和重组活化 FVII(rFVIIa),由于其安全性和有效性,rFVIIa 通常更受青睐。我们介绍两例儿科病例:一名五岁男孩 PT 延长至 55%,FVII 水平为 25.1%;一名两岁男孩 PT 为 24%,FVII 水平为 4.6%。这两个病例都突出了在 FVII 缺乏症中进行全面止血评估和制定个性化管理策略的重要性。