Bauer E A, Ludman M D, Goldberg J D, Berkowitz R L, Holbrook K A
J Invest Dermatol. 1986 Nov;87(5):597-601. doi: 10.1111/1523-1747.ep12455843.
We performed fetoscopy and skin biopsy on a 19-week fetus at risk for recessive dystrophic epidermolysis bullosa (RDEB). Ultrastructural analysis of the tissue revealed dermolytic blister formation in the skin characteristic of the disease. To develop a biochemical test for use in antenatal diagnosis of RDEB, we established skin fibroblast cultures from the 20-week aborted fetus. The collagenase production by fetal RDEB fibroblast cultures was greater than seen in normal fetal fibroblast cultures. The concentration in culture medium from fetal RDEB cultures was 5.42 +/- 0.74 micrograms/ml (mean +/- SE) compared with 2.24 +/- 1.11 micrograms/ml in normal adult control cultures and 2.05 +/- 0.61 micrograms/ml in cultures from patients with other genetic forms of epidermolysis bullosa (p less than 0.025). In contrast, the concentration of collagenase in the fetal RDEB culture medium was not different from that seen in cell cultures from known patients with RDEB (5.34 +/- 1.12 micrograms/ml). Collagenase activity of the fetal RDEB medium was also increased approximately 3.5-fold. These data indicate that enhanced expression of collagenase by fetal RDEB skin fibroblasts can serve as a biochemical adjunct, and possibly an alternative, to morphologic examination of tissue for antenatal diagnosis.
我们对一名患有隐性营养不良性大疱性表皮松解症（RDEB）风险的19周胎儿进行了胎儿镜检查和皮肤活检。对组织的超微结构分析显示，皮肤中形成了具有该疾病特征的溶解性水疱。为了开发一种用于RDEB产前诊断的生化检测方法，我们从20周流产胎儿中建立了皮肤成纤维细胞培养物。胎儿RDEB成纤维细胞培养物产生的胶原酶比正常胎儿成纤维细胞培养物中观察到的更多。胎儿RDEB培养物培养基中的浓度为5.42±0.74微克/毫升（平均值±标准误），而正常成人对照培养物中为2.24±1.11微克/毫升，其他遗传形式的大疱性表皮松解症患者培养物中为2.05±0.61微克/毫升（p<0.025）。相比之下，胎儿RDEB培养基中胶原酶的浓度与已知RDEB患者的细胞培养物中观察到的浓度没有差异（5.34±1.12微克/毫升）。胎儿RDEB培养基的胶原酶活性也增加了约3.5倍。这些数据表明，胎儿RDEB皮肤成纤维细胞中胶原酶表达的增强可作为生化辅助手段，可能是组织形态学检查的替代方法，用于产前诊断。
