儿童混合性结缔组织病9例临床分析

目的总结分析儿童混合性结缔组织病(MCTD)的临床及转归特点。方法对2001—2009年间确诊为MCTD的9例患儿的临床表现、实验室检查、诊治及随访情况进行总结分析。结果 9例患儿均有雷诺现象,其次常见的症状包括关节肿痛、手指肿胀、硬指、发热、乏力、贫血、活动后气短等。血液系统受累4例,其中3例轻度贫血,1例血小板减少。1例肾活检提示符合狼疮肾炎IIA型。实验室指标中红细胞沉降率增快8例,IgG升高7例,C4降低3例,CH50升高5例,CK升高4例(该4例患儿均行肌电图检查,3例未见明显肌源性损害,1例为可疑肌源性损害)。自身抗体ANA阳性9例,抗U1-RNP抗体阳性9例,抗SSA抗体低滴度阳性3例。6例行肺功能检查,4例存在弥散功能障碍。6例行肺部高分辨CT检查,2例示肺间质病变。超声心动图检查示肺动脉高压3例,合并右心增大、主动脉增宽2例,轻度肺动脉高压1例,合并少量心包积液1例。3例行食管造影检查,未见明显食管蠕动障碍。多数患儿入院前曾诊断为系统性红斑狼疮、幼年特发性关节炎、雷诺现象、结缔组织病、发热原因待查等,不规律接受激素或免疫抑制剂治疗者4例。9例患儿经确诊后予规范激素和(或)免疫抑制剂治疗,8例病情好转,1例病情控制无明显进展,无死亡病例。结论儿童MCTD为多系统受累,早期以雷诺现象、关节症状、发热多见,在尚未出现肺部症状时可存在肺功能、肺部高分辨CT异常,可伴有肺动脉高压,误诊率较高。早期完善相关免疫指标、超声心动图、肺功能、肺部高分辨CT、食管造影等检查可帮助诊断。规范的激素及免疫抑制剂治疗对病情转归及预后极为重要,需长期对患儿进行随访观察。

Nine cases analysis of pediatric mixed connective tissue disease

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-U1-ribonucleoprotein(RNP)antibody were positive in all 9 patients,and anti-Sjgren’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.