Familial discrepancy of clinical outcomes associated with fibrinogen Dorfen: A case of huge genital hematoma after episiotomy
Familial discrepancy of clinical outcomes associated with fibrinogen Dorfen: A case of huge genital hematoma after episiotomy
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纤维蛋白原 Dorfen 相关临床结果的家族性差异：会阴切开术后巨大生殖器血肿一例
DOI：
10.1111/jog.12972
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发表时间：
2016
期刊：
影响因子：
--
通讯作者：
Fujiwara H
中科院分区：
文献类型：
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作者：
Kagami K;Yamazaki R;Minami T;Okumura N;Morishita E;Fujiwara H
本研究显示一例分娩后巨大的生殖器血肿，与纤维蛋白原多芬有关。纤维蛋白原Dorfen是纤维蛋白原编码的外显子基因突变，在γ基因的密码子289上有一个单一的杂合GCC→GTC过渡，预示着Ala→Val取代。由于Ala289通过氢键维持“a”孔聚合位点的结构起着至关重要的作用，推测γ 289Ala→Val取代不仅可以改变纤维蛋白原的结构，还可以改变聚合的功能。在我们的病例中，虽然患者的基因突变与她母亲的基因突变相同，但临床结果却存在差异。虽然这种差异的确切机制尚不清楚，但就阴道分娩而言，它可能导致不同的围产期结局，例如该患者出现严重出血，而其母亲没有临床症状。这是首次报道纤维蛋白原Dorfen功能的异质性，这可能对临床结果至关重要。
This study demonstrates a case of a huge genital hematoma after delivery, associated with fibrinogen Dorfen. Fibrinogen Dorfen is the mutation of a fibrinogen‐coded exon gene, which has a single heterozygous GCC → GTC transition at codon 289 of the γ gene, predicting an Ala → Val substitution. Because Ala289 plays a crucial role in maintaining the structure of the polymerization site of hole ‘a’ via a hydrogen bond, it is speculated that the γ 289Ala → Val substitution can change not only the fibrinogen structure, but also the function of polymerization. In our case, although the patient's gene mutation was the same as that of her mother, there was a discrepancy in the clinical outcomes. Although the precise mechanism regarding this discrepancy remains unknown, it may cause different perinatal outcomes in terms of vaginal delivery, such as the severe bleeding in this patient and the absence of clinical symptoms in her mother. This is the first report suggesting the heterogeneity of fibrinogen functions of fibrinogen Dorfen, which may be critical to the clinical outcome.