Safe childbirth for a type 1 antithrombin-deficient woman with novel mutation in the SERPINC1 gene undergoing antithrombin concentrate therapy.
Safe childbirth for a type 1 antithrombin-deficient woman with novel mutation in the SERPINC1 gene undergoing antithrombin concentrate therapy.
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一名 SERPINC1 基因出现新突变的 1 型抗凝血酶缺陷女性接受抗凝血酶浓缩液治疗时的安全分娩。
DOI：
10.1097/mbc.0000000000000785
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发表时间：
2019
期刊：
影响因子：
--
通讯作者：
Takenaka K
中科院分区：
文献类型：
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作者：
Ikeda Y;Yamanouchi J;Hato T;Yasukawa M;Takenaka K
遗传性抗凝血酶（AT）缺乏是一种常染色体显性血栓性疾病。我们遇到了一例遗传性I型AT缺乏症，并确定了致病突变；serpin1基因中的c. 7430A >g错义突变，其中酪氨酸取代了第292个氨基酸的半胱氨酸。在细胞裂解液或培养上清液中未检测到具有7430A >g突变的重组AT蛋白。然后，我们的患者没有个人或家族史的血栓形成是孕妇无症状AT缺乏症。我们的患者在怀孕期间只接受了AT浓缩治疗，她能够安全自然分娩并避免血栓形成。我们相信这种治疗对于无症状AT缺乏的孕妇在妊娠期间作为抗凝治疗是有效和安全的。
Inherited antithrombin (AT) deficiency is an autosomal dominant thrombotic disorder. We encountered a case of inherited type I AT deficiency and identified the causative mutation; a novel c. 7430A> G missense mutation in the SERPINC1 gene in which tyrosine was substituted for cysteine at the 292nd amino acid. A recombinant AT protein with the 7430A> G mutation was not detected in cell lysates or culture supernatants. And then, our patient without personal or family history of thrombosis was pregnant woman with asymptomatic AT deficiency. Our patient treated with only AT concentrate therapy during pregnancy and she was able to safely give birth naturally and avoid thrombosis. We believe that this therapy for pregnant woman with asymptomatic AT deficiency is effective and safety as anticoagulant therapy during pregnancy.