营养不良型大疱性表皮松解症的诊治进展

Diagnosis and treatment of dystrophic epidermolysis bullosa

营养不良型大疱性表皮松解症是遗传性大疱性表皮松解症中较为严重的类型，目前已发现，Ⅶ型胶原基因COL7A1是其致病的相关基因，呈现不同的临床表型与COL7A1等位基因突变的位点和形式不同相关。除目前临床应用的有创性羊膜腔穿刺产前诊断技术，超声、母体血胎儿有核红细胞分离以及游离胎儿DNA提取技术的发展将推动无创性产前诊断技术的提高。近年来，从分子缺陷水平对于营养不良型大疱性表皮松解症的治疗又有新的尝试。

Dystrophic epidermolysis bullosa （DEB） is a severe type of hereditary epidermolysis bullosa （EB）. At present, the type VII collagen gene COL7A1 has been found to be related to the pathogenesis of DEB. Clinical phenotypes of DEB are associated with sites and forms of COL7A1 gene mutations. Besides invasive amniocentesis, non-invasive prenatal diagnosis techniques for DEB have been improving, including ultrasonic examination, isolation of fetal nucleated red blood cells and analysis of cell-free fetal DNA from maternal blood. Recently, new progress has been made in treatments targeting molecular defects in DEB.