Pulmonary dysfunction in children with Duchenne muscular dystrophy may occur earlier than we thought - analysis using novel methodology based on z-scores

杜氏肌营养不良症患儿的肺功能障碍可能比我们想象的出现得更早——基于z评分的新方法分析

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Abstract

INTRODUCTION: Respiratory status is one of the main factors affecting the length of survival in patients with Duchenne muscular dystrophy (DMD) - the most common, severe, progressive muscular dystrophy. Aim of the study was (1) to assess pulmonary function in DMD patients using the z-score method and (2) to identify factors affecting it, irrespective of disease progression. MATERIAL AND METHODS: We evaluated 55 boys (aged 5-18 years) with DMD. The spirometry was performed with: forced vital capacity (FVC), forced expiratory volume in 1 s (FEV(1)), peak expiratory flow (PEF) analysis as absolute values (in litres or litres/min), % predicted value (%pv) and z-scores (z). Information on the need of ventilation support, ambulatory status and steroid therapy was collected. RESULTS: 25 (45%) subjects were non-ambulatory, 38 (69%) used steroid therapy. Mean FVC[z] -2.4 ±2.2, FEV(1)[z] -2.0 ±1.9, PEF[z] -1.5 ±1.3 values significantly decreased with age (r = -0.62/-0.65/-0.55; p < 0.001 respectively), after reaching the peak values in the range 9-12 or 6-9 years of age depending on the analysis method (absolute, %pv or z-score). The results fell below the normal range (z-score < -1.64) at the age of 9.8/10.4/11.6 years and below 80%pv at 10.7/12.2/13.2 for FVC/FEV(1)/PEF, respectively. The pulmonary function test results were significantly lower in non-ambulant (p < 0.001) and non-steroid patients (p < 0.02). CONCLUSIONS: Analysis of the pulmonary function test based on z-scores shows that deterioration of pulmonary function in DMD males may occur earlier than we thought when measured by %pv and absolute values. Early loss of ambulation, lack of steroids and delayed steroid therapy are risk factors for worse pulmonary outcomes. To confirm these findings, cohort longitudinal studies are necessary.

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