跨越诊断时代的幼年皮肌炎：一项25年队列中的治疗演变与长期结局

文献信息

中文摘要

背景： 幼年皮肌炎（JDM）是一种罕见的自身免疫性肌病，具有异质性表型和多变的长期结局。我们旨在总结一个25年的单中心队列，并评估临床特征、检查、自身抗体谱、治疗以及累积性损伤的决定因素。方法：我们回顾性纳入104例符合2017年EULAR/ACR标准（2000—2025年）且随访≥6个月的患者。记录临床特征、并发症、检查（肌电图、MRI、活检）、治疗以及肌炎特异性/相关性抗体。诊断时代定义为2000—2007年、2008—2014年和2015—2025年。使用标准化和归一化的MDI范围/扩展评分以及MyoDAM严重程度评估损伤。结果：该队列以女性为主（66.3%）。起病和诊断时的平均年龄分别为7.7±4.1岁和8.5±4.2岁；中位随访时间为52.6个月。皮肤受累（91.3%）和近端肌无力（79.8%）是最常见的首发特征。自身抗体频率与既往报道相当，但表型关联有所不同。钙质沉着从诊断时的13.5%增加至总体的40.4%；皮肤溃疡从3.8%增加至12.5%。甲襞毛细血管镜检查异常（57.5%）与钙质沉着相关（p=0.031）。钙质沉着频率在不同时代之间无差异（p=0.535），至钙质沉着的时间曲线相似（log-rank p=0.235）。在多变量分析中，诊断延迟≥6个月、慢性活动性病程、吞咽困难和皮肤溃疡与更高的损伤独立相关（校正R²：MDI范围为0.416；MDI扩展为0.403；MyoDAM严重程度为0.449）。结论：累积性损伤主要由诊断延迟、持续性疾病病程以及严重的血管病性/系统性特征驱动，这强调了早期识别和达标治疗升级以预防长期损伤的重要性。

英文摘要

Juvenile dermatomyositis (JDM) is a rare autoimmune myopathy with heterogeneous phenotypes and variable long-term outcomes. We aimed to summarize a 25-year single-center cohort and to evaluate clinical characteristics, investigations, autoantibody profiles, treatments and determinants of cumulative damage. We retrospectively included 104 patients fulfilling the 2017 EULAR/ACR criteria (2000-2025) with ≥6 months follow-up. Clinical features, complications, investigations (EMG, MRI, biopsy), treatments and myositis-specific/associated antibodies were recorded. Diagnostic eras were defined as 2000-2007, 2008-2014 and 2015-2025. Damage was assessed using standardized and normalized MDI extent/extended scores and MyoDAM severity. The cohort showed female predominance (66.3%). Mean age at onset and diagnosis were 7.7 ± 4.1 and 8.5 ± 4.2 years; median follow-up was 52.6 months. Skin involvement (91.3%) and proximal muscle weakness (79.8%) were the most frequent presenting features. Autoantibody frequencies were comparable to previous reports, although phenotype associations differed. Calcinosis increased from 13.5% at diagnosis to 40.4% overall; skin ulceration from 3.8% to 12.5%. Nailfold capillaroscopy abnormalities (57.5%) were associated with calcinosis (p = 0.031). Calcinosis frequency did not differ across eras (p = 0.535), and time-to-calcinosis curves were similar (log-rank p = 0.235). In multivariable analyses, diagnostic delay ≥6 months, chronic active course, dysphagia and cutaneous ulceration were independently associated with higher damage (adjusted R²: 0.416 for MDI extent; 0.403 for MDI extended; 0.449 for MyoDAM severity). Cumulative damage was primarily driven by delayed diagnosis, persistent disease course and severe vasculopathic/systemic features, underscoring the importance of early recognition and treat-to-target escalation to prevent long-term damage.