Marfan氏综合征的临床基础及遗传分析

Clinical basis and genetic analysis of Marfan syndrome

目的通过对马凡综合征患者的临床特征、病因及病理变化的分析,提高其治疗预后水平。方法对患者进行症状、体征、实验室等项检查,得到患者的眼、骨骼、心血管等系统的临床资料,收集完整的家系资料进行遗传分析,判断发病情况并评估再发风险。结果得到一马凡综合征患者的家系,并进一步确定其常染色体显性的遗传方式,明确了患者的表型特征,总结了目前的诊治方法,给与家系中相关人员以必要的遗传指导。结论马凡综合征是编码原纤维蛋白-1(原纤蛋白-1,FIBRILLIN-1)的基因FBN1的突变所致,对该病的诊断治疗已经取得了一定的进展。早期诊断,预防心血管并发症,是降低死亡率的关键。

Objective：Summarize the clinical features and the causes in etiology and pathology of the Marfan syndrome patients to improve the diagnosis and treatment. Methods：check the patients with symptom、sign、laboratory examination;get the information of a number of systems,such as the ocular,skeletal,cardiovascular systems etc;collect the complete pedigree data for genetic analysis,and assess the risk of recurrence. Results：Get a family with Marfan syndrome,and further confirm the mode of inheritance is autosomal dominant,define phenotypic characteristics of patients;summarize the current treatment methods and give the members of the clans the necessary genetic instructions. Conclusion：Marfan syndrome is caused by mutations in Fibrillin-1（FBN1）gene,and diagnosis and treatment of this disease have made some progress.Early diagnosis,prevention of cardiovascular complications,is the key to reducing mortality.