Objective To investigate the clinical feature and outcome of pediatric mixed connective tissue disease (MCTD). Methods Summarize and analysis the clinical manifestations, laboratory data, treatments and follow-up data of children diagnosed as MCTD from 2001 to 2009. Results Raynaud's phenomenon was presented in all 9 cases, other common symptoms included joint pain, swollen fingers, fever, fatigue, anemia, shortness of breath. Four cases had hematological abnormalities, including mild anemia in 3 patients and thrombocytopenia in one case. Only one patient had renal biopsy which suggested lupus nephritis type IIA. Referring to laboratory data, 8 cases presented as elevated erythrocyte sedimentation rate (ESR) . Seven cases had increased IgG, and 3 cases had decreased C4, CH50 elevated in 5 patients. Four patients had blood creatine kinase (CK) examined, at the same time electromyogram (EMG) performed. Among them, only 1 case had suspicious myogenic damage. Antinuclear antibody (ANA) and anti-Ul-ribonucleoprotein (RNP) antibody were positive in all 9 patients, and anti-Sjogren's syndrome A (SSA) antibody was positive in 3 cases with low-titer. Pulmonary function was tested on 6 children, 4 manifested as diffuse dysfunction. Two patients showed interstitial lung disease out of 6 children who had lung high-resolution CT examined. Echocardio-graphy showed pulmonary hypertension in 3 cases. One patient had mild pulmonary hypertension. One combined with pericardial effusion. Esophageal imaging was performed in three patients, no one showed significant esophageal hypomotility. Most patients were diagnosed with systemic lupus erythematosus, juvenile idiopathic arthritis, Raynaud's phenomenon, connective tissue disease, fever of unknown origin before admission. After admitted to the hospital, 9 children were applied appropriate hormones and/or immunosuppressive therapy. Eight of them had a better change, 1 case without significant progress and no one died. Conclusions Pediatric MCTD is a multiple system involved disease. Raynaud's phenomenon, joint symptoms and fever are most common symptoms in the early stage. There could be pulmonary function and high-resolution CT abnormalities in clinically asymptomatic stage. So taking the examinations of immune parameters, echocardiography, pulmonary function, pulmonary high-resolution CT, esophageal imaging as early as possible might facilitate the diagnosis. Appropriate hormone and immunosuppressant treatment was important for the outcomes, which emphasize the importance of long-term follow-up.%目的 探讨颅内出血足月新生儿血清基质金属蛋白酶(MMP).9、基质金属蛋白酶组织因子(TIMP).1水平动态变化及其临床意义.方法 采用酶联免疫吸附试验法(ELISA)分别测定30例颅内出血患儿在生后1d内,3、7、15天血清MMP-9、TIMP-1水平及其两者比值,并与30例健康足月新生儿进行对照比较.结果 颅内出血足月新生儿血清MMP-9、TIMP-1及MMP-9/TIMP-1水平明显高于对照组(P<0.01),以出生后3 d内MMP-9、TIMP-1水平及MMP-9/TIMP-1最高,7 d后开始下降,随病情恢复其水平缓慢下降,15 d部分患儿恢复正常,但与对照组比较差异仍有统计学意义(P<0.05).小、中、大量出血患儿血清MMP-9、TIMP-1及MMP-9/TIMP-1与对照组比较,差异均有统计学意义(P<0.01);三组间比较,差异均有统计学意义(P<0.01).结论 颅内出血足月新生儿血清MMP-9、TIMP-1及MMP-9/TIMP-1水平均明显增高,可作为判定病情和评估预后的参考指标.
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