Pathophysiology and Japanese clinical characteristics in Marfan syndrome
Pathophysiology and Japanese clinical characteristics in Marfan syndrome
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马凡综合征的病理生理学和日本临床特征
DOI：
10.1111/ped.12423
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Hirata Y
中科院分区：
文献类型：
--
作者：
Fujita D;Takeda N;Imai Y;Inuduka R;Komuro I;Hirata Y
马凡综合征是一种结缔组织常染色体显性遗传性疾病，由 FBN1 基因突变引起，该基因编码原纤维蛋白-1，是细胞外基质微原纤维的主要成分。 Fibrillin-1 与转化生长因子-β (TGF-β) 相互作用，TGF-β 信号传导失调在结缔组织疾病和家族性主动脉瘤和夹层（包括马凡综合征）的发展中发挥着重要作用。氯沙坦是一种血管紧张素 II 阻滞剂，具有减少 TGF-β 信号传导的潜力，预计将成为一种额外的治疗选择。临床诊断是使用根特疾病分类学进行的，这需要对患者进行全面的评估，并且已被证明效果良好，但由单个医生评估某些诊断标准是困难且耗时的。 2005年，东京大学医院成立了马凡诊所，汇集了心脏病专家、心脏外科医生、儿科医生、骨科医生和眼科医生，旨在快速、准确地评估和诊断马凡综合征。本文综述了马凡综合征的诊断和治疗的最新进展，以及日本马凡综合征患者的特点。
Marfan syndrome is an autosomal dominant heritable disorder of the connective tissue, caused by mutations of the geneFBN1, which encodes fibrillin‐1, a major component of the microfibrils of the extracellular matrix. Fibrillin‐1 interacts with transforming growth factor‐β (TGF‐β), and dysregulated TGF‐β signaling plays a major role in the development of connective tissue disease and familial aortic aneurysm and dissection, including Marfan syndrome. Losartan, an angiotensin II blocker, has the potential to reduce TGF‐β signaling and is expected to be an additional therapeutic option. Clinical diagnosis is made using the Ghent nosology, which requires comprehensive patient assessment and has been proven to work well, but evaluation of some of the diagnostic criteria by a single physician is difficult and time‐consuming. A Marfan clinic was established at the University of Tokyo Hospital in 2005, together with cardiologists, cardiac surgeons, pediatricians, orthopedists, and ophthalmologists in one place, for the purpose of speedy and accurate evaluation and diagnosis of Marfan syndrome. In this review, we discuss the recent progress in diagnosis and treatment of Marfan syndrome, and the characteristics of Japanese patients with Marfan syndrome.