Ratzenhofer E, Legenstein E, Meznik E, Lubec G
Z Hautkr. 1979 Nov 15;54(22):987-92.
Urine samples of five patients with epidermolysis bullosa hereditaria were examined for the presence of acid glycosaminoglycans (GAG) and compared to 10 healthy subjects. A significant increase (p less than 0.0005) could be detected in patients with epidermolysis (t = 6.66, means: 49.7 mg/day, standard deviation: +/- 18.3). Additionally, acid glycosaminoglycan concentration in sweat of patients and healthy controls was determined but statistical calculations showed no significant difference (p less than 0.15). On grounds of the increased mucopolysaccharide excretion and the previous studies of collagen-glycosaminoglycan interactions, we strongly suggest that acid GAG are involved in the pathogenesis of that disease with the molecular defect of disturbed fibril formation due to the altered skin collagen-glycosaminoglycan equilibrium.
对五名遗传性大疱性表皮松解症患者的尿液样本进行了酸性糖胺聚糖（GAG）检测，并与10名健康受试者进行了比较。在表皮松解症患者中可检测到显著增加（p<0.0005）（t=6.66，均值：49.7毫克/天，标准差：±18.3）。此外，还测定了患者和健康对照者汗液中的酸性糖胺聚糖浓度，但统计计算显示无显著差异（p<0.15）。基于粘多糖排泄增加以及先前关于胶原蛋白-糖胺聚糖相互作用的研究，我们强烈建议酸性GAG参与该疾病的发病机制，该疾病存在分子缺陷，由于皮肤胶原蛋白-糖胺聚糖平衡改变导致原纤维形成紊乱。
