Cattivelli Kim, Distefano Cristina, Bonetti Lorenza, Testa Sophie, Siboni Simona Maria, Plebani Alessandro, Poggiani Carlo
Pediatrics Clinic, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.
Pediatrics Department, Istituti Ospedalieri di Cremona, Cremona, Italy.
Transfus Med Hemother. 2018 Apr;45(2):104-106. doi: 10.1159/000481993. Epub 2018 Mar 8.
Major hemorrhages in newborns can be caused by several conditions, and knowledge of the differential diagnosis is essential in order to ensure prompt recognition and appropriate treatment. We describe the case of a male newborn experiencing recurrent hemorrhages from the first days of life. Laboratory findings showed normal platelet count, hepatic function, and C-reactive protein. Coagulation tests detected an isolated prothrombin time (PT) prolongation and severe factor VII (FVII) deficiency. Inherited FVII deficiency is a rare autosomal recessive bleeding disorder. Clinical presentation is heterogeneous, and bleeding severity is not directly related to FVII levels. Acute bleeding episodes can be treated with human plasma-derived FVII (pdFVII) or recombinant activated FVII (rFVIIa). In case of severe deficiency, prophylaxis must be evaluated. Awareness of this condition is crucial in order to establish prompt diagnosis and treatment.
新生儿的严重出血可由多种情况引起，了解鉴别诊断对于确保及时识别和恰当治疗至关重要。我们描述了一名男性新生儿自出生第一天起就反复出血的病例。实验室检查结果显示血小板计数、肝功能和C反应蛋白均正常。凝血试验检测到孤立的凝血酶原时间（PT）延长和严重的因子VII（FVII）缺乏。遗传性FVII缺乏是一种罕见的常染色体隐性出血性疾病。临床表现具有异质性，出血严重程度与FVII水平无直接关系。急性出血发作可用人血浆源性FVII（pdFVII）或重组活化FVII（rFVIIa）治疗。对于严重缺乏的情况，必须评估预防性治疗。认识这种疾病对于及时诊断和治疗至关重要。
