Wang Min, Chen Tian-Ping, Jiang Ao-Shuang, Zhao Ying-Hui, Zhu Cheng-Lin, Wei Nan, Jin Yu-Ting, Qu Li-Jun
Department of Hematology and Oncology, Anhui Provincial Children's Hospital, Hefei 230022, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2024 Aug 15;26(8):840-844. doi: 10.7499/j.issn.1008-8830.2403064.
To investigate the clinical phenotypes and genotypes of children with congenital fibrinogen disorder (CFD).
A retrospective analysis was conducted on the clinical data of 16 children with CFD. Polymerase chain reaction was used to amplify all exons and flanking sequences of the , , and genes, and sequencing was performed to analyze mutation characteristics.
Among the 16 children, there were 9 boys (56%) and 7 girls (44%), with a median age of 4 years at the time of attending the hospital. Among these children, 9 (56%) attended the hospital due to bleeding events, and 7 (44%) were diagnosed based on preoperative examination. The children with bleeding events had a significantly lower fibrinogen activity than those without bleeding events (<0.05). Genetic testing was conducted on 12 children and revealed a total of 12 mutations, among which there were 4 novel mutations, i.e., c.80T>C and c.1368delC in the gene and c.1007T>A and C.1053C>A in the gene. There were 2 cases of congenital afibrinogenemia caused by null mutations of the gene, with relatively severe bleeding symptoms. There were 7 cases of congenital dysfibrinogenemia mainly caused by heterozygous missense mutations of the and genes, and their clinical phenotypes ranged from asymptomatic phenotype to varying degrees of bleeding.
The clinical phenotypes of children with CFD are heterogeneous, and the severity of bleeding is associated with the level of fibrinogen activity, but there is a weak association between clinical phenotype and genotype.
探讨先天性纤维蛋白原异常症（CFD）患儿的临床表型和基因型。
对16例CFD患儿的临床资料进行回顾性分析。采用聚合酶链反应扩增 、 和 基因的所有外显子及其侧翼序列，并进行测序以分析突变特征。
16例患儿中，男9例（56%），女7例（44%），入院时中位年龄为4岁。其中，9例（56%）因出血事件入院，7例（44%）基于术前检查确诊。出血事件患儿的纤维蛋白原活性显著低于无出血事件患儿（<0.05）。对12例患儿进行基因检测，共发现12种突变，其中4种为新突变，即 基因中的c.80T>C和c.1368delC以及 基因中的c.1007T>A和C.1053C>A。有2例因 基因无效突变导致的先天性无纤维蛋白原血症，出血症状相对严重。有7例先天性异常纤维蛋白原血症主要由 和 基因的杂合错义突变引起，其临床表型从无症状表型到不同程度的出血不等。
CFD患儿的临床表型具有异质性，出血严重程度与纤维蛋白原活性水平相关，但临床表型与基因型之间的关联较弱。
