Diagnostic utility of skin biopsy in dystrophinopathies
Diagnostic utility of skin biopsy in dystrophinopathies
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DOI：
10.1016/j.clineuro.2009.01.011
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发表时间：
2009-07-01
影响因子：
1.9
通讯作者：
Bhatia, Rohit
中科院分区：
文献类型：
--
作者：
Tanveer, Nadeem;Sharma, Mehar C.;Bhatia, Rohit
目的：肌肉活检是诊断肌营养不良症的重要诊断方式和筛查测试。有时肌肉活检是必要的诊断时，基因测试是不确定的，也是有用的肌营养不良蛋白的免疫印迹分析。然而，这个过程是痛苦的，需要麻醉，有时需要重复。本研究进行了阐明的作用，皮肤活检在dystrophinopathies的诊断和验证，如果它可以被用作一个有用的辅助/替代肌肉biopsies.Methods：配对皮肤和肌肉活检进行了研究，从39例Duchenne型肌营养不良症（DMD），4例贝克氏肌营养不良症（BMD）和37名对照。免疫组化染色dystrophin和utrophin进行冷冻切片的测试组和对照组和他们的染色模式在皮肤活检组织中进行了比较，相应的肌肉biopsizes.Results：免疫组化染色dystrophin是阴性的皮肤活检组织中的所有患者（39/39，100%）与DMD和BMD患者的皮肤中只有弱表达（4/4，100%）。对照组立皮利肌细胞肌营养不良蛋白表达率为94.6%，除2例肌营养不良蛋白弱表达外，其余均为强表达。DMD患者竖皮利肌细胞Utrophin阳性表达率为100%，对照组为81.1%。结论：皮肤活检对DMD的诊断及与其他肌肉疾病的鉴别诊断具有重要意义。它具有高度的敏感性，特异性，阳性和阴性预测值。它可以成为肌肉活检的有用辅助/替代品，特别是当需要重复活检来监测治疗或患有晚期DMD的患者时，其中极端的纤维化、脂肪组织浸润和炎症使肌肉活检的解释变得困难。与肌肉活检相比，皮肤活检是一种简单、成本效益高、侵入性和创伤性较小的诊断方法。这一点更有意义，因为肌营养不良患者接受任何形式的全身麻醉的风险都更高。与肌肉活检相比，皮肤活检的其他优点是活检部位的疤痕较小，感染机会较少。(c)2009年由Elsevier B.V.出版
Aims: Muscle biopsy is an important diagnostic modality and screening test for the diagnosis of dystrophinopathies. Sometimes muscle biopsies are needed for the diagnosis when genetic tests are inconclusive and are also useful for immunoblotting assay of the dystrophin protein. However, the procedure is painful, requires anesthesia and sometimes needs to be repeated. This study was undertaken to elucidate the role of skin biopsy in the diagnosis of dystrophinopathies and to validate if it can be utilized as a useful adjunct/replacement for the muscle biopsy.Methods: Paired skin and muscle biopsies were studied from 39 patients with Duchenne muscular dystrophy (DMD), 4 patients with Becker's muscular dystrophy (BMD) and 37 controls. Immunostaining for dystrophin and utrophin was done on frozen sections of the test group and controls and their staining pattern in skin biopsies was compared with corresponding muscle biopsies.Results: Immunostaining for dystrophin was negative in the skin biopsies of all patients (39/39, 100%) with DMD and was only weakly expressed in skin of BMD patients (4/4, 100%). Dystrophin was strongly expressed on arrector pili muscle cells of all control patients (94.6%) except two cases in whom it was weakly expressed. Utrophin was expressed on the arrector pili muscle cells of DMD patients (39/39, 100%) as well as controls (30/37, 81.1%).Conclusion: Our study suggests that skin biopsy is very useful for the diagnosis of dystrophinopathies and their differentiation from other muscle diseases. It has high degrees of sensitivity, specificity, and positive and negative predictive values. It can be a useful adjunct/replacement for the muscle biopsy especially when repeated biopsies are required for monitoring therapy or in patients with advanced DMD where extreme fibrosis, adipose tissue infiltration and inflammation make interpretation of the muscle biopsy difficult. Skin biopsy is a simple, cost effective, less invasive and less traumatic diagnostic procedure when compared with muscle biopsy. This is even more pertinent because patients with muscular dystrophies have a higher risk for any form of general anesthesia. A smaller scar and fewer chances of infection at the site of biopsy are other additional advantages of skin biopsy over muscle biopsy. (c) 2009 Published by Elsevier B.V.