Sadakata Rinako, Hatamochi Atsushi, Kodama Keiji, Kaga Akiko, Yamaguchi Takefumi, Soma Tomoyuki, Usui Yutaka, Nagata Makoto, Ohtake Akira, Hagiwara Koichi, Kanazawa Minoru
Department of Respiratory Medicine, Saitama Medical University, Saitama, Japan.
Intern Med. 2010;49(16):1797-800. doi: 10.2169/internalmedicine.49.3435. Epub 2010 Aug 13.
Ehlers-Danlos syndrome type IV (EDS type IV), vascular type, an autosomal dominant disorder caused by a mutation of the type III procollagen gene (COL3A1) is the most severe form of EDS and often presents with aortic hemorrhage or organ perforation. This report discusses a male patient with EDS type IV with dyspnea due to hemopneumothorax. He had thin skin and hypermobile joints and was clinically confirmed as having EDS type IV. The diagnosis was genetically confirmed by a mutation c.2528 G>A (p.Gly843Glu) in the COL3A1 gene. The position of the mutation has never been reported.
IV型埃勒斯-当洛综合征（EDS-IV型），即血管型，是一种由III型前胶原基因（COL3A1）突变引起的常染色体显性疾病，是EDS最严重的形式，常表现为主动脉出血或器官穿孔。本报告讨论了一名因血气胸导致呼吸困难的IV型EDS男性患者。他皮肤薄且关节活动过度，临床确诊为IV型EDS。通过COL3A1基因中的c.2528 G>A（p.Gly843Glu）突变进行了基因确诊。该突变位置此前从未有过报道。
