因子 VII 缺乏症：7 岁儿童中罕见的遗传性出血性疾病：病例报告。
Factor VII deficiency: a rare genetic bleeding disorder in a 7-year-old child: a case report.
机构信息
Department of Paediatrics and Child Health, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Department of Paediatrics, Muhimbili National Hospital, Dar es Salaam, Tanzania.
出版信息
J Med Case Rep. 2023 Apr 14;17(1):138. doi: 10.1186/s13256-023-03884-3.
BACKGROUND
Factor VII deficiency is a rare inherited bleeding disorder that has similar clinical presentation to hemophilia.
CASE REPORT
A 7-year-old male child of African origin experienced recurrent nasal bleeding since 3 years of age and recurrent swelling of the joints that was remarkable at the age of 5-6 years. He received multiple blood transfusions and has been managed as a patient with hemophilia until he presented to our facility. Reviewed evaluation of the patient revealed abnormal prothrombin and normal activated partial thromboplastin time, FVII analysis showed activity level of less than 1%, and the diagnosis of FVII deficiency was made. The patient was treated with fresh frozen plasma, vitamin K injection, and tranexamic tablets.
CONCLUSION
Even though factor VII deficiency is an extremely rare bleeding disorder, it does occur in our setting. This case highlights the need for clinicians to consider this condition when faced with challenging patients presenting with bleeding disorders.
背景
VII 因子缺乏症是一种罕见的遗传性出血性疾病，其临床表现与血友病相似。
病例报告
一名 7 岁的非洲裔男性儿童自 3 岁起反复出现鼻出血，5-6 岁时反复出现关节肿胀。他接受了多次输血治疗，并被作为血友病患者进行管理，直到他来到我们的医疗机构。对患者的回顾性评估显示，凝血酶原异常，活化部分凝血活酶时间正常，VII 因子分析显示活性水平低于 1%，从而确诊为 VII 因子缺乏症。患者接受了新鲜冷冻血浆、维生素 K 注射和氨甲环酸片治疗。
结论
尽管 VII 因子缺乏症是一种极为罕见的出血性疾病，但在我们的环境中确实会发生。本病例强调了临床医生在面对具有出血性疾病表现的挑战性患者时，需要考虑到这种疾病的可能性。
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