CAJ | 학술논문

Ehlers-Danlos综合征(Ehlers-Danlos syndtome,EDS) 一组罕见的遗传性结缔组织疾病,共同的临床特征为皮肤弹性过度、脆性增加、创伤后愈合延迟、形成萎缩性瘢痕及泛发的关节运动过度.该病分为6个临床类型,其遗传方式不同、临床表现多样.分子遗传学研究显示,本病的发生与COL5A1、COL5A2、TNXB、COL3A1、PLOD1、COL1A1、COL1A2和ADAMTS-2等基因有关.
Ehlers-Danlos종합정(Ehlers-Danlos syndtome,EDS) 일조한견적유전성결체조직질병,공동적림상특정위피부탄성과도、취성증가、창상후유합연지、형성위축성반흔급범발적관절운동과도.해병분위6개림상류형,기유전방식불동、림상표현다양.분자유전학연구현시,본병적발생여COL5A1、COL5A2、TNXB、COL3A1、PLOD1、COL1A1、COL1A2화ADAMTS-2등기인유관.
Ehlers-Danlos syndrome (EDS) comprises a heterogeneous group of rare hereditary connective tissue diseases, of which the major clinical features are hyperextensibility of skin, hypermobility of the joints, generalized connective tissue fragility, and delayed wound healing with formation of atrophic scars. The disease is divided into six clinical types. Molecular genetics research showed that the mutations in COL5A1 gene, COL5A2 gene, TNXB gene, COL3A1 gene, PWD1 gene, COL1A1 gene, COL1A2 gene and ADAMTS-2 gene are linked to EDS.