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目的报道1例自身免疫性淋巴细胞增殖综合征的临床特点、诊断、治疗及随访,提高国内儿科医生对该病的认识。方法 2009年5月中山大学附属第一医院收治1例自身免疫性淋巴细胞增殖综合征患儿,回顾分析该患儿临床资料及诊疗过程,复习国内外相关文献。结果患儿1岁11个月,以全血细胞减少、肝脾淋巴结肿大为主要临床表现,并有肾小球肾炎、炎症性肠病的临床表现,CD3+且CD4、CD8双阴性细胞比例明显升高,伴PaIgG、ANA、ANCA、胰岛素自身抗体等抗体阳性。Fas、FasL及Casp10基因检测未发现基因突变。糖皮质激素联合其他免疫抑制剂治疗短期效果明显,但激素减量时易反复。结论本病例在临床上诊断自身免疫性淋巴增殖综合征可成立。提高对本病的认识可以减少误诊率。
Objective To report the clinical features, diagnosis, treatment and follow-up of one case of autoimmune lymphoproliferative syndrome and to raise awareness of the disease among domestic pediatricians. Methods One case of autoimmune lymphoproliferative syndrome was admitted to the First Affiliated Hospital of Sun Yat - sen University in May 2009. The clinical data and diagnosis and treatment of the children were retrospectively reviewed. Relevant literatures at home and abroad were reviewed. Results Children 1 year and 11 months old, with pancytopenia, hepatosplenomegaly and lymph nodes as the main clinical manifestations, and glomerulonephritis, inflammatory bowel disease clinical manifestations, CD3 and CD4, CD8 double negative cells increased significantly High, with PaIgG, ANA, ANCA, insulin autoantibodies and other antibodies positive. Fas, FasL and Casp10 gene test found no gene mutation. Corticosteroids combined with other immunosuppressive agents for the treatment of short-term effect is obvious, but easy to repeat hormone reductions. Conclusion This case is clinically diagnosed with autoimmune lymphoproliferative syndrome can be established. Awareness of the disease can reduce the misdiagnosis rate.