PDF(Pubmed)
Abstract：
Combined factor V and factor VIII deficiency (F5F8D) is an exceedingly rare autosomal recessive disease that causes concomitantly low levels of factor V and factor VIII, leading to mild to moderate bleeding tendencies. Within this disorder, mutations manifest in the lectin mannose-binding protein (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2) genes. This report presents a case of a five-year-old Saudi female child who was referred from an otolaryngology clinic, with an incidental finding of prolonged prothrombin time (PT), international normalized ratio (INR), and activated partial thromboplastin time (aPTT) detected during routine preoperative investigations for tonsillectomy, prompting further investigations. There was no prior history of bleeding symptoms in the patient. She was discovered to have low assays of factor V and factor VIII on subsequent investigations. Whole exome sequencing revealed the novel homozygous mutation c.604C>T in the LMAN1 gene, validating the diagnosis of F5F8D.
摘要：
联合因子V和因子VIII缺乏症（F5F8D）是一种极为罕见的常染色体隐性遗传疾病，可同时导致因子V和因子VIII的低水平，导致轻度至中度出血倾向。在这种混乱中，在凝集素甘露糖结合蛋白（LMAN1）或多种凝血因子缺乏2（MCFD2）基因中表现出突变。本报告介绍了一名5岁的沙特女性儿童，她从耳鼻喉科诊所转诊，伴随着凝血酶原时间延长（PT）的偶然发现，国际标准化比率(INR)，在扁桃体切除术的常规术前检查中检测到的活化部分凝血活酶时间（aPTT），促使进一步调查。患者先前没有出血症状史。在随后的研究中，发现她对因子V和因子VIII的分析较低。全外显子组测序揭示了LMAN1基因中的新纯合突变c.604C>T,验证F5F8D的诊断。
