儿童风湿性疾病合并巨噬细胞活化综合征六例临床分析

目的巨噬细胞活化综合征（MAS）的诊断和治疗尚未得到统一,总结分析我院6例MAS患儿的临床资料,为临床救治工作提供参考。方法回顾性分析我院1998-2004年风湿性疾病合并MAS患儿的临床资料。结果共有6例（女4例,男2例）患儿符合MAS的诊断条件。发生MAS前,4例诊断幼年特发性关节炎全身型（SOJIA）,2例诊断系统性红斑狼疮和狼疮性肾炎。所有病例确诊MAS时疾病状态处于低活动期,主要的临床特征是：峰形热（5／6）或中高热（1／6）,肝脾肿大（6／6）,淋巴结病（6／6）,外周血3系减少（6／6）,明显的肝损伤（6／6）,弥漫性血管内凝血象（2／6）和中枢神经系统功能障碍（3／6）。低纤维蛋白原血症、肝酶升高和高甘油三酯血症均持续存在。3例骨髓涂片可见吞噬血细胞现象和浆细胞岛,其他3例未行此检查。3例患儿被证实存在感染,2例单纯疱疹病毒（HSV）和1例甲型肝炎病毒（HAV）。未发现药物相关因素。分别进行个体化治疗,重点在早期发现和联合抗病毒治疗,适度地联合免疫化疗（HLH-94或环孢素A）可以获得及时的缓解。1例SOJIA患儿严重肝损伤经连续性血液滤过／肾脏替代治疗联合免疫化疗获得迅速缓解。2例SOJIA患儿死于严重的内脏出血。结论MAS不仅见于SOJIA,还可以发生在儿科其他风湿性疾病的任何阶段,其发生率可能要高于以往的认识。感染可能是主要的触发因素。适时的免疫净化联合免疫化疗有益于严重肝损伤的恢复。

Macrophage activation syndrome in children with rheumatic disorders: a retrospective study on 6 patients

Objective To study the clinical manifestations of rheumatic disorders with macrophage activation syndrome(MAS)in children.Methods The authors characterized MAS by carrying out a retrospective study on patients who were identified during the past 12 years in Tianjin Children's Hospital.Results Six cases(4 females,2 males)were studied.Four had typical systemic onset juvenile idiopathic arthritis(SOJIA),two had systemic lupus erythematosus(SLE)with lupus nephritis.Clinical manifestations at diagnosis,which occurred in the lower activity state of these primary diseases,included high spiking fever(in 5 cases)or high fever(in 1),hepatosplenomegaly(in 6),lymphadenopathy(in 6),profound decrease of all 3 blood cell lines(in 6),significant injury of liver(in 6),diseminated intravascular coagulation(DIC)-like picture(in 2),and central nervous system dysfunction(in 3).Hypofibrinogenemia,elevated liver enzymes and hypertriglyceridemia were found consistently.The phagocytic histiocytes with plasmacytosis were found in 3 bone marrow smears(not done in others).MAS was presumed to have been precipitated by viral infections in 3 patients,two had evidences for herpes simplex virus infection and one for hepatitis A virus infection.The treatment regimen was tailored to each patient,as the clinical course was variable.Conclusions MAS may not only be most frequently seen in children with SOJIA,but also in those with other rheumatic diseases,and may be a syndrome that is more common than previously thought.Infection may be main trigger factor for MAS.The immunoapheresis combined with immunochemotherapy may be optimal for severe injury of the liver in patients with MAS.