[Clinical phenotypes and genotypes of congenital fibrinogen disorder: an analysis of 16 children].

OBJECTIVES

To investigate the clinical phenotypes and genotypes of children with congenital fibrinogen disorder (CFD).

METHODS

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.

RESULTS

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.

CONCLUSIONS

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.