Rutkowska-Sak Lidia, Gietka Piotr
Clinic of Developmental Age Rheumatology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
Reumatologia. 2019;57(6):315-319. doi: 10.5114/reum.2019.91275. Epub 2019 Dec 31.
Mixed connective tissue disease is a rare systemic connective tissue disease of developmental age and it includes the features of arthritis, polymyositis/dermatomyositis, systemic lupus erythematosus and systemic sclerosis, with presence of anti-ribonucleoprotein antibodies (anti-RNP) in serum. Early diagnosis of the disease is difficult but essential in preventing development of systemic complications, which are often irreversible. International literature does not report many studies on large cohorts of children with this disease. The aim of this retrospective study was to define clinical characteristics and long-term results of treatment of the disease in 60 children with mixed connective tissue disease hospitalized in the period between 1978 and 2018. The diagnosis was established on the basis of Kasukawa's criteria.
It was a group of 60 children (46 girls and 16 boys) aged 10.5 on average (4-16.5). When assessing general symptoms at the onset of the disease according to Kasukawa's criteria, the highest number, over 80% of children, demonstrated symptoms suggesting SLE, about 40% suggesting DM and about 25% suggesting SSC. In the period of observation the number of children with clinical symptoms suggesting SSC increased. The most common clinical symptoms included Raynaud syndrome, arthritis and myositis and the most common irregularities in the test results included presence of anti-RNP antibodies and rheumatoid factor and hematological symptoms such as leukopenia/thrombocytopenia. Restrictive lung function impairment was demonstrated by 20% of children. Treatment most often included combined therapy (glucocorticosteroids + methotrexate/azathioprine).
In 70% of the patients stable improvement was observed. Remission concerned 7% of the patients, frequent exacerbations were found in almost 20% of patients, and 2 children (3.5%) died.
The long term observations of patients in developementeal age with mixed connective tissue disease revealed that the majority of them had domination of SLE symptoms, only in 7% achieved remission and 70% remained in stable improvement. Serious infections with septic state were the cause of death in two cases.
混合性结缔组织病是一种发生于发育年龄的罕见系统性结缔组织病，它具有关节炎、多发性肌炎/皮肌炎、系统性红斑狼疮和系统性硬化症的特征，血清中存在抗核糖核蛋白抗体（抗RNP）。该病的早期诊断困难，但对于预防往往不可逆转的全身并发症的发生至关重要。国际文献中关于患有这种疾病的儿童大样本队列的研究报道不多。这项回顾性研究的目的是确定1978年至2018年间住院的60例混合性结缔组织病患儿的临床特征及长期治疗结果。诊断依据Kasukawa标准确立。
这是一组平均年龄为10.5岁（4 - 16.5岁）的60名儿童（46名女孩和16名男孩）。根据Kasukawa标准评估疾病发作时的一般症状，超过80%的儿童表现出提示系统性红斑狼疮的症状，约40%提示皮肌炎，约25%提示系统性硬化症。在观察期间，出现提示系统性硬化症临床症状的儿童数量增加。最常见的临床症状包括雷诺综合征、关节炎和肌炎，检查结果中最常见的异常包括抗RNP抗体和类风湿因子的存在以及白细胞减少/血小板减少等血液学症状。20%的儿童存在限制性肺功能损害。治疗最常采用联合治疗（糖皮质激素 + 甲氨蝶呤/硫唑嘌呤）。
70%的患者病情稳定改善。7%的患者缓解，近20%的患者频繁复发，2名儿童（3.5%）死亡。
对发育年龄的混合性结缔组织病患者的长期观察显示，他们中的大多数以系统性红斑狼疮症状为主，只有7%的患者缓解，70%的患者病情保持稳定改善。两例死亡病例的死因是严重感染伴败血症状态。
