Serum creatinine as a biomarker for dystrophinopathy: a cross-sectional and longitudinal study

作者：Liang Wang, Min Xu, Dawei Liu, Yingyin Liang, Pinning Feng, Huan Li, Yuling Zhu, Ruojie He, Jinfu Lin, Huili Zhang, Ziyu Liao, Cheng Zhang · 发表于：BMC Neurology · 年份：2021 · DOI：10.1186/s12883-021-02382-7 · 被引用次数：8 · 研究领域：Muscle Physiology and Disorders、Nutrition and Health in Aging、Adipose Tissue and Metabolism

BACKGROUND: Dystrophinopathy, a common neuromuscular disorder, includes Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Many researches are currently ongoing to develop curative approaches, which results in an urgent need for biomarkers of disease progression and treatment response. This study investigated whether the serum creatinine (SCRN) level can be used as a biomarker of disease progression in dystrophinopathy. METHODS: We enrolled 377 male patients with dystrophinopathy and 520 male non-dystrophinopathy controls in a cross-sectional study. From this cohort, 113 follow-up patients were enrolled in a longitudinal study. Patients' demographic information, motor function, muscle fatty infiltration, and muscle dystrophin levels were evaluated. We investigated correlations between these parameters and SCRN levels, and determined changes in SCRN levels with maturation and with motor function changes. RESULTS: Our results showed SCRN levels correlated with motor function (FDR < 0.001) and timed test results (FDR between < 0.001-0.012), as well as with muscle fatty infiltration (FDR < 0.001) and dystrophin levels (FDR = 0.015 and 0.001). SCRN levels increased with maturation in control individuals; it slowly increased with maturation in patients with BMD but decreased generally with maturation in patients with DMD. The longitudinal study further demonstrated that SCRN levels were associated with motor function. CONCLUSIONS: These findings indicated that t...