Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene.
Congenital Hypofibrinogenemia in a Neonate with a Novel Mutation in the FGB Gene.
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DOI：
10.3390/pediatric13010016
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发表时间：
2021-03-01
影响因子：
1.1
通讯作者：
Imashuku S
中科院分区：
文献类型：
--
作者：
Shinozuka J;Okumura N;Nagasawa M;Nishikado M;Kadowaki S;Katsuda I;Imashuku S
新生儿出生后不久检测到严重的低纤维蛋白原血症（<50mg/dL）是令人担忧的，因为存在出血风险。一名女婴在出生第0天被发现有低纤维蛋白原血症（<50mg/dL）；她没有血小板减少症/凝血功能障碍或出血症状。考虑到无纤维蛋白原血症可能导致出血，开始每周两次输注新鲜冰冻血浆（FFP）以将其血浆纤维蛋白原水平维持在50 - 100mg/dL。此后，我们发现其父亲和姐姐也有低纤维蛋白原血症，并且通过凝血块形成和免疫学方法测定的血浆纤维蛋白原水平在新生儿（先证者）及其父亲中均显示出类似的降低值。基于先天性低纤维蛋白原血症的推测诊断，对纤维蛋白原基因进行了测序，发现了FGB（Genbank NG008833）的一种新型杂合突变；p.403Try>Stop。该新生儿接受反复的FFP输注治疗直至两个月大，由于她一直无症状，治疗停止。
Detection of severe hypofibrinogenemia (<50 mg/dL) in a neonate soon after birth is alarming because of the risk of hemorrhage. A female neonate was noted to be hypofibrinogenemic (<50 mg/dL) on day 0 of birth; she showed no thrombocytopenia/coagulopathy or hemorrhagic symptoms. Considering the possibility of afibrinogenemia, which may cause bleeding, fresh frozen plasma (FFP) was initiated twice a week to maintain her plasma fibrinogen level at 50–100 mg/dL. Thereafter, we found hypofibrinogenemia in her father and elder sister and plasma fibrinogen levels, determined by clot formation and immunological methods, showed similarly reduced values in both the neonate (proband) and her father. Based on a presumed diagnosis of congenital hypofibrinogenemia, sequencing of the fibrinogen genes was performed, revealing a novel heterozygous mutation of FGB (Genbank NG008833); a p.403Try>Stop. The neonate was treated with repeat FFP infusions until two months of age, when treatment was stopped because she remained asymptomatic.
影响因子：
2.6
作者：
Zhou W;He Y;Li Q;Li Y;Su Y;Yan L
通讯作者：
Yan L