CAJ | 학술논문

目的分析幼年特发性关节炎-全身型(So-JIA)并巨噬细胞活化综合征(MAS)的临床特点、治疗及转归,并探讨穿孔素基因与So-JIA并MAS的关系.方法回顾性分析广州市儿童医院2003年1月至2008年6月收治的14例So-JIA并发MAS患者的临床资料,对其中7例患者进行序列特异性引物-聚合酶链反应(SSP-PCR)分析穿孔素第2外显子第272C/T基因(A91V gene)多态性.结果 14例患儿9例为男性,5例为女性;年龄为4个月～12岁.临床表现以长期发热、骨髓噬血现象、血细胞减少为特征,可伴随有浅表淋巴结肿大、肝脾肿大、肝功能损害、脂代谢异常,糖皮质激素及免疫抑制剂治疗有效.其中出现急性呼吸窘迫综合征(ARDS)2例,出现多器官功能衰竭(MOF)3例,死亡3例.7例So-JIA并发MAS的患者穿孔素A91V基因均为野生型,未发现有突变基因.结论 MAS病情凶险,预后与早期诊断及治疗有关.MOF可能足其预后差的指征.未发现广东地区汉族So-JIA并MAS患儿与穿孑L素A91V基因多态性有关.
목적 분석유년특발성관절염-전신형(So-JIA)병거서세포활화종합정(MAS)적림상특점、치료급전귀,병탐토천공소기인여So-JIA병MAS적관계.방법 회고성분석엄주시인동의원2003년1월지2008년6월수치적14례So-JIA병발MAS환자적림상자료,대기중7례환자진행서렬특이성인물-취합매련반응(SSP-PCR)분석천공소제2외현자제272C/T기인(A91V gene)다태성.결과 14례환인9례위남성,5례위녀성;년령위4개월～12세.림상표현이장기발열、골수서혈현상、혈세포감소위특정,가반수유천표림파결종대、간비종대、간공능손해、지대사이상,당피질격소급면역억제제치료유효.기중출현급성호흡군박종합정(ARDS)2례,출현다기관공능쇠갈(MOF)3례,사망3례.7례So-JIA병발MAS적환자천공소A91V기인균위야생형,미발현유돌변기인.결론 MAS병정흉험,예후여조기진단급치료유관.MOF가능족기예후차적지정.미발현엄동지구한족So-JIA병MAS환인여천혈L소A91V기인다태성유관.
Objective Macrophage activation syndrome (MAS) is a severe, potentially life-threatening clinical condition. The clinical features including precipitating events, clinical presentations, treatment strategies, outcome in systemic onset juvenile idiopathic arthritis (So-JIA) children with MAS were reviewed. Perforin A91V gene analysis was also performed. Methods Retrospective review of fourteen MAS cases with So-JIA from 2003 to 2008 from a collected database. Gene-specific polymerase chain reaction ( PCR) primers were used to analyze the perforin A91V gene polymorphism. Results Fourteen patients with age from 4 months to 12 years were considered to have evidence of MAS. Nine of them were boys. The primary diagnosis was systemic onset juvenile idiopathic arthritis. No medication was identified as trigger. Eleven of them had infections prior to MAS. Among them specific infectious agents were identified in four patients. High fever, new onset of hepatosplenomegaly, lymphadenopathy, liver function abnormality, abnormal lipid metabolism and hemophagocytosis were common clinical features. Two cases presented with acute respiratory distress syndrome (ARDS). Multiple organ failure (MOF) occurred in three cases. Three patients died. The variant form (NCBI: SNP rs35947132) of perforin A91V gene was detected in seven systemic onset juvenile idiopathic arthritis compolicated with MAS cases. However no mutation was detected. Clucocorticoid, intravenous immunoglobulin, immunoimpressive therapy were effective treatment of this condition. Plasmapheresis (HP) was successfully used in one case with severe MAS. Conclusions MAS is a rare and potentially fatal complication of childhood rheumatoid diseases such as systemic onset juvenile idiopathic arthritis. In this series, majority of them were male and most of them were preceded by infection. Bone marrow studies support the diagnosis. MOF may be a poor prognostic sign of So-JIA. Aggressive and early therapy is essential. There is no relationship between the variant form (NCBI: SNP rs35947132) of perforin A91V gene and So-JIA with MAS in this small sample's study. More research need to be done by increasing sample's numbers.