目的:儿童混合性结缔组织病(cMCTD)是最罕见的儿童结缔组织疾病,包括系统性红斑狼疮的特征,多发性肌炎/皮肌炎,幼年特发性关节炎,和系统性硬化症,由夏普于1972年鉴定,其诊断仍然具有挑战性。本系统评价旨在确定cMCTD发病时的临床特征和目前未纳入可用诊断标准的表现。
方法:根据PRISMA指南2020使用文献数据库:MEDLINE通过PubMed和EMBASE进行了系统的文献综述。
方法:诊断为MCTD的患者在18年前发病。
方法:注册管理机构,回顾性和前瞻性队列研究,病例系列和报告,分析症状和体征的数据。
结果:共纳入39篇文章(215名受试者,82.5%女性),平均年龄141个月(±41个月DS,范围2.5-204)。最常用的MCTD诊断标准是Kasukawa标准(54.5%)。发病时临床表现为雷诺现象(69.7%),关节炎(60.9%),肌肉受累(53.5%),皮肤病学体征(39.5%),手指或手部肿胀(29.3%),关节痛(25.6%),发烧(22.3%),肺受累(14.4%),硬化(13.5%),淋巴结病(10.7%)浆膜炎(10.2%),食管受累(6.9%),神经系统受累(6.9%),xeroftalmia(3.7%),口干症(3.7%),肝脾肿大(2.8%),心脏受累(2.8%),肝炎(2.3%),腮腺炎(2.3%),桥本甲状腺炎(0.9%),眼部受累(0.9%)。
结论:本系统综述的数据表明cMCTD的临床表现存在很大的异质性,没有经过验证的诊断标准,这可能提示一种新的诊断方法,以便将来更早或更准确地诊断。
OBJECTIVE: Childhood Mixed Connective Tissue Disease (cMCTD) is the rarest pediatric connective tissue disease that includes features of systemic lupus erythematosus, polymyositis/dermatomyositis, juvenile idiopathic arthritis, and systemic sclerosis, identified by Sharp in 1972 and whose diagnosis remains challenging. This systematic
review aims to identify clinical features at the onset of cMCTD and manifestations not currently included into the available diagnostic criteria.
METHODS: A systematic literature
review was performed in accordance with PRISMA guidelines 2020 using bibliographic databases: MEDLINE via PubMed and EMBASE.
METHODS: patients diagnosed with MCTD with onset before 18 years.
METHODS: registries, retrospective and prospective cohort studies, case series and reports with analysis of data on signs and symptoms of presentation.
RESULTS: 39 articles were included (215 subjects, 82.5% female), mean age of 141 months (± 41 months DS, range 2.5-204). The most used criteria for the diagnosis of MCTD were the Kasukawa criteria (54.5%). The clinical manifestations described at onset were Raynaud\'s phenomenon (69.7%), arthritis (60.9%), muscular involvement (53.5%), dermatological signs (39.5%), swollen fingers or hands (29.3%), arthralgias (25.6%), fever (22.3%), lung involvement (14.4%), sclerodactily (13.5%), lymphadenopathy (10.7%) serositis (10.2%), esophageal involvement (6.9%), nervous system involvement (6.9%), xeroftalmia (3.7%), xerostomia (3.7%), hepatosplenomegaly (2.8%), cardiac involvement (2.8%), hepatitis (2.3%), parotiditis (2.3%), Hashimoto\'s thyroiditis (0.9%), ocular involvement (0.9%).
CONCLUSIONS: The data from this systematic
review suggest great heterogeneity of the clinical presentation of cMCTD for which there are no validated diagnostic criteria that may suggest a new diagnostic approach to allow earlier or more accurate diagnosis in the future.