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

BMC Neurology

Min Xu¹  Pinning Feng²  Huili Zhang³  Jinfu Lin⁴  Ruojie He⁴  Huan Li⁴  Yuling Zhu⁴  Ziyu Liao⁴  Cheng Zhang⁴  Liang Wang⁴  Yingyin Liang⁴  Dawei Liu⁵ 

[1] Department of Dermatology, The Second Affiliated Hospital of Guangzhou Medical University;Department of Laboratory, The First Affiliated Hospital, Sun Yat-sen University;Department of Neurology, Guangzhou First People’s Hospital;Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology;Department of Pathology, The First Affiliated Hospital, Sun Yat-sen University;

关键词: Dystrophinopathy;    Biomarker;    Disease progression;    Serum creatinine;   

DOI  :  10.1186/s12883-021-02382-7

来源: DOAJ

【 摘 要 】

Abstract 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 the SCRN level is a promising biomarker for assessing disease progression in dystrophinopathy and could be used as a potential outcome measure in clinical trials.

【 授权许可】

Unknown