DUCHENNE MUSCULAR DYSTROPHY – IMAGING AND BIOMARKERS: P.31Serum creatinine: a promising biomarker for distinguishing Duchenne muscular dystrophy from Becker muscular dystrophy in patients aged ≤ 3 Years

Abstract

Dystrophinopathy is a common muscular dystrophy, consisting of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The prognosis and treatment strategy between DMD and BMD are totally different. This study was designed to investigate correlations between the level of serum creatinine and clinical phenotypes of dystrophinopathy in young patients. We enrolled sixty-eight patients with dystrophinopathy, whose diagnosis were based on clinical manifestation, biochemical changes, and molecular analysis. The levels of serum creatinine were determined when patients were ≤ 3 years old. Each patient was followed up, and motor function and clinical phenotype were assessed when the same patients were ≥ 4 years old. The results indicated that in young patients, lower serum creatinine levels were associated with increased disease severity (p < 0.01), and that serum creatinine levels were the highest in patients exhibiting mild BMD (p < 0.001) and the lowest in patients with DMD (p < 0.01), and were significantly higher in patients carrying in-frame mutations than in patients carrying out-of-frame mutations (p < 0.001). Serum creatinine level cut-off values for identifying mild BMD [18 μmol/L; area under the curve (AUC): 0.947; p < 0.001] and DMD (17 μmol/L; AUC: 0.837; p < 0.001) were established. These results suggest that serum creatinine might be a promising biomarker for distinguishing DMD from BMD in patients aged ≤ 3 years and could assist in the selection of appropriate treatment strategies.