IMMUNOHISTOLOGIC ABNORMALITIES OF THE MICROFIBRILLAR-FIBER SYSTEM IN THE MARFAN-SYNDROME
IMMUNOHISTOLOGIC ABNORMALITIES OF THE MICROFIBRILLAR-FIBER SYSTEM IN THE MARFAN-SYNDROME
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DOI：
10.1056/nejm199007193230303
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发表时间：
1990-07-19
影响因子：
158.5
通讯作者：
PYERITZ, RE
中科院分区：
文献类型：
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作者：
HOLLISTER, DW;GODFREY, M;PYERITZ, RE
背景。对马凡综合征患者的皮肤和培养的真皮成纤维细胞的间接免疫荧光研究表明，结缔组织的一种元素——微原纤维纤维系统.sbd明显缺乏。在使用针对原纤维蛋白（一种主要微原纤维蛋白）的特异性抗体进行的测定中。本研究旨在测试这些免疫染色异常是否与疾病的诊断特征一致。方法。我们根据单盲方案研究了马凡氏综合症或各种其他遗传性结缔组织疾病的患者和正常受试者，其中在不了解临床诊断的情况下对皮肤、成纤维细胞培养物或两者的编码样本进行分析，并在样本代码被破坏之前将其分类为“马凡氏”或“非马凡氏”。结果。在 27 名马凡综合征患者中，有 24 名患者通过皮肤中微原纤维含量、培养的成纤维细胞或两者的减少而被正确识别； 相比之下，25 名患有其他结缔组织遗传性疾病的患者中的 19 名以及所有 13 名正常受试者通过这些测定被正确分类为“非马凡氏”（P
Background. Indirect-immunofluorescence studies of skin and cultured dermal fibroblasts from patients with the Marfan syndrome demonstrate apparent deficiency of one element of connective tissue-the microfibrillar-fiber system .sbd. in assays using specific antibodies against fibrillin, a major microfibrillar protein. This study was designed to test whether these immunostaining abnormalities are consistent and diagnostic features of the disease. Methods. We studied patients with either the Marfan syndrome or various other inherited connective-tissue disorders and normal subjects according to a single-blind protocol in which coded samples of skin, fibroblast cultures, or both were analyzed without knowledge of the clinical diagnosis and classified as "Marfan" or "non-Marfan" before the sample codes were broken. Results. Of the 27 patients with the Marfan syndrome, 24 were correctly identified by the decreased content of microfibrillar fibers in their skin, cultured fibroblasts, or both; in contrast, 19 of 25 patients with other heritable disorders of connective tissue and all 13 normal subjects were correctly classified as "non-Marfan" by these assays (P