埃勒斯-当洛综合征综述。
A review of Ehlers-Danlos syndrome.
作者信息
Miller Erin, Grosel John M
机构信息
At the time this article was written, Erin Miller was a student in the PA program at Marietta (Ohio) College. She now practices urgent care and occupational health with McLaren Health in Flint, Mich. John M. Grosel is a radiologist at Riverside Radiology and Interventional Associates, Inc., based in Columbus, Ohio, and a McCoy associate professor in the PA program at Marietta College. The authors have disclosed no potential conflicts of interest, financial or otherwise.
出版信息
JAAPA. 2020 Apr;33(4):23-28. doi: 10.1097/01.JAA.0000657160.48246.91.
Ehlers-Danlos syndrome (EDS) describes a group of heritable disorders of connective tissue comprising mutations in the genes involved in the structure and/or biosynthesis of collagen. Thirteen EDS subtypes are recognized, with a wide degree of symptom overlap among subtypes and with other connective tissue disorders. The clinical hallmarks of EDS are tissue fragility, joint hypermobility, and skin hyperextensibility. Appropriate diagnosis of EDS is important for correct multidisciplinary management and is associated with better clinical outcomes for patients.
埃勒斯-当洛综合征（EDS）是一组遗传性结缔组织疾病，包括参与胶原蛋白结构和/或生物合成的基因突变。已识别出13种EDS亚型，各亚型之间以及与其他结缔组织疾病之间存在广泛的症状重叠。EDS的临床特征为组织脆弱、关节活动过度和皮肤过度伸展。对EDS进行恰当诊断对于正确的多学科管理很重要，并且与患者更好的临床结局相关。
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