Viollet Laurence, Gailey Susan, Thornton David J, Friedman Neil R, Flanigan Kevin M, Mahan John D, Mendell Jerry R
Research Institute at Nationwide Children's Hospital and Department of Pediatrics at Ohio State University, 700 Children's Drive, Room 3011, Columbus, Ohio 43205, USA.
Muscle Nerve. 2009 Sep;40(3):438-42. doi: 10.1002/mus.21420.
Creatinine as a marker of renal function has limited value in Duchenne muscular dystrophy (DMD) because of reduced muscle mass. Alternative methods of assessing renal function are sorely needed. Cystatin C, a nonglycosylated protein unaffected by muscle mass, is potentially an ideal biomarker of nephrotoxicity for this population but requires validation. In all, 75 subjects were recruited: 35 DMD (mean age 10.8 +/- 5.4 years, corticosteroids n = 19, ambulatory n = 26), 29 healthy controls, 10 with renal disease, and one DMD with renal failure. Cystatin C levels in DMD were normal irrespective of age, ambulation, or corticosteroid treatment. Serum cystatin C was 0.67 +/- 0.11 mg/l compared to normal controls 0.69 +/- 0.09. mg/l. In these same individuals serum creatinine was severely reduced (0.27 +/- 0.12 mg/dl) versus normals (0.75 +/- 0.15 mg/dl, P < 0.01). In one DMD subject in renal failure, cystatin C was elevated. This study demonstrates the potential value of cystatin C as a biomarker for monitoring renal function in DMD. Its applicability extends to other neuromuscular diseases.
由于肌肉量减少，肌酐作为肾功能标志物在杜氏肌营养不良症（DMD）中的价值有限。因此，迫切需要其他评估肾功能的方法。胱抑素C是一种不受肌肉量影响的非糖基化蛋白质，可能是该人群肾毒性的理想生物标志物，但需要进行验证。总共招募了75名受试者：35名DMD患者（平均年龄10.8±5.4岁，其中19名使用皮质类固醇，26名可独立行走），29名健康对照者，10名肾病患者，以及1名患有肾衰竭的DMD患者。DMD患者的胱抑素C水平无论年龄、行走能力或皮质类固醇治疗情况如何均正常。血清胱抑素C为0.67±0.11mg/l，而正常对照者为0.69±0.09mg/l。在这些个体中，血清肌酐与正常人相比严重降低（0.27±0.12mg/dl对0.75±0.15mg/dl，P<0.01）。在1名患有肾衰竭的DMD受试者中，胱抑素C升高。这项研究证明了胱抑素C作为监测DMD患者肾功能的生物标志物的潜在价值。其适用性扩展到其他神经肌肉疾病。
