Kaitila Ilkka, Jokinen Eero, Kokkonen Jorma
Helsingin yliopisto, lääketieteellisen genetiikan osasto.
Duodecim. 2012;128(5):503-13.
This review on Marfan syndrome is focused on the clinical heterogeneity and variability, the new diagnostic criteria as delineated by an expert group in 2010, the current knowledge on the molecular and pathogenetic etiology, and the options of the medical and surgical treament. Defined clinical findings, family history and mutations in the FBN1 gene only differentiate Marfan syndrome from the other aortic syndromes. The involvement of the cellular TGF-beta-signaling in pathogenesis allows new approach for medical treatment with ATR-blockers for which, however, evidence based indications are still lacking. Finally, a suggestion is made how to arrange the diagnostic workup, appropriate treatment and follow-up of the Marfan patients in the Finnish health care.
这篇关于马凡综合征的综述聚焦于临床异质性和变异性、2010年一个专家小组制定的新诊断标准、目前关于分子和致病病因的知识，以及药物和手术治疗的选择。明确的临床发现、家族史和FBN1基因突变仅能将马凡综合征与其他主动脉综合征区分开来。细胞转化生长因子-β信号通路参与发病机制，这为使用血管紧张素受体阻滞剂进行药物治疗提供了新方法，然而，基于证据的适应症仍然缺乏。最后，就芬兰医疗保健中如何安排马凡综合征患者的诊断检查、适当治疗和随访提出了建议。
