Ramanan Radha, McFadyen James D, Perkins Andrew C, Tran Huyen A
Department of Haematology, Alfred Hospital, Melbourne, Victoria, Australia.
Australian Centre for Blood Diseases, Monash University, Melbourne, Victoria, Australia.
Br J Haematol. 2023 Nov;203(3):355-368. doi: 10.1111/bjh.19039. Epub 2023 Aug 15.
Congenital fibrinogen disorders or CFDs are heterogenous, both in clinical manifestation and array of culprit molecular lesions. Correlations between phenotype and genotype remain poorly defined. This review examines the genetic landscape discovered to date for this rare condition. The question of a possible oligogenic model of inheritance influencing phenotypic heterogeneity is raised, with discussion of the benefits and challenges of sequencing technology used to enhance discovery in this space. Considerable work lies ahead in order to achieve diagnostic and prognostic precision and subsequently provide targeted management to this complex cohort of patients.
先天性纤维蛋白原异常（CFDs）在临床表现和致病分子病变类型方面均具有异质性。表型与基因型之间的相关性仍不明确。本综述探讨了迄今为止针对这种罕见疾病所发现的遗传情况。文中提出了一种可能影响表型异质性的寡基因遗传模式的问题，并讨论了用于加强该领域发现的测序技术的益处和挑战。为了实现诊断和预后的精准性，并随后为这一复杂的患者群体提供针对性管理，仍有大量工作要做。
