目的:儿童硬皮病(SSc)的系统性形式是一种非常罕见的疾病;因此,它被认识得相对较晚,这增加了并发症的风险。该研究的目的是评估我们队列患者中青少年系统性硬化症(JSSc)的临床症状。
方法:观察一组(N=22)2至16岁的硬皮病患者。收集并分析了在发育年龄的风湿性疾病的临床观察中16年的人口统计学数据和所有临床结果。
结果:在所有观察到的儿童中,发现了主要的JSSc标准,即掌指骨和/或底趾关节近端的皮肤增厚。其他症状如下:甲褶毛细血管异常-100%,雷诺现象-90.9%,sclerodactyly-27.3%,数字尖端溃疡-27.3%,吞咽困难-18.2%,胃食管反流-27.3%(仅在10名儿童中评估),心律失常-22.7%,心力衰竭-9.1%,新发动脉高血压-9.1%,肺纤维化-72.7%,肺动脉高压-9.1%,神经病变-13.6%,腕管综合征-4.5%,肌腱摩擦摩擦-4.5%,关节炎-22.7%,和肌炎-13.6%。无肾危象病例。12例患者(58.3%)的氧气扩散能力降低。86.7%的患者发现存在抗核抗体,在SSc选择性自身抗体中:抗entromere-31.8%,抗拓扑异构酶I-18.2%,反PM-Scl100或75-45.5%,anti-RP11,Th/To,PCNA总数为27.3%。在4.5%的案例中,除了抗PM-Scl自身抗体的存在,狼疮带试验阳性,补体浓度降低,还发现了抗磷脂抗体。在59%的被研究儿童中,体重指数低于第25百分位数。
结论:回顾性分析表明,雷诺氏现象的发生随甲折毛细血管镜的变化是评估JSSc风险的最佳筛查指标。所有发育年龄有雷诺现象的患者,特别是在出现抗核抗体的情况下,无论其他实验室或影像学检查如何,都应使用毛细管镜检查进行监测。
OBJECTIVE: The systemic form of scleroderma (SSc) in children is a very rare disease; therefore, it is recognized relatively late, which increases the risk of complications. The aim of the study was to assess the clinical symptoms of juvenile systemic sclerosis (JSSc) in our cohort patients.
METHODS: A group of (N = 22) scleroderma patients aged between 2 and 16 years were observed. Demographic data and all clinical results obtained during 16 years of observation in the clinic of rheumatic diseases of developmental age were collected and analysed.
RESULTS: In all observed children the major JSSc criterion was found, i.e. skin thickening proximal to the metacarpal phalangeal and/or metatarsophalangeal joints. Other symptoms are presented as follows: nailfold capillary abnormalities - 100%, Raynaud\'s phenomenon - 90.9%, sclerodactyly - 27.3%, digital tip ulcers - 27.3%, dysphagia - 18.2%, gastroesophageal reflux - 27.3% (assessed in only 10 children), arrhythmias - 22.7%, heart failure - 9.1%, new-onset arterial hypertension - 9.1%, pulmonary fibrosis - 72.7%, pulmonary arterial hypertension - 9.1%, neuropathy - 13.6%, carpal tunnel syndrome - 4.5%, tendon friction rubs - 4.5%, arthritis - 22.7%, and myositis - 13.6%. There were no cases of renal crisis. Decreased diffusing capacity of oxygen was confirmed in 12 patients (58.3%). The presence of antinuclear antibodies was noticed in 86.7% of patients, and among SSc selective autoantibodies: anticentromere - 31.8%, anti-topoisomerase I - 18.2%, anti-PM-Scl 100 or 75 - 45.5%, anti-RP11, Th/To, PCNA in total in 27.3% were presented. In 4.5% of cases, apart from the presence of anti-PM-Scl autoantibodies, positive lupus band test, reduced concentration of complement, and antiphospholipid antibodies were also found. In 59% of studied children, the body mass index was below the 25th percentile.
CONCLUSIONS: The presented retrospective analysis shows that the occurrence of Raynaud\'s phenomenon with changes in nailfold capillaroscopy is the best screening toll for the assessment of risk of JSSc. All patients of developmental age with Raynaud\'s phenomenon, especially in the case of the appearance of antinuclear antibodies, should be monitored with capillaroscopy regardless of other laboratory or imaging tests.