217例噬血细胞性淋巴组织细胞增生症患儿的临床及实验室检查特点分析

Analysis of clinical and laboratory features of 217 pediatric hemophagocytic lymphohistiocytosis

目的 探讨我国儿童噬血细胞性淋巴组织细胞增生症（HLH）的临床及实验室检查特点.方法 回顾性分析217例HLH患儿的临床及实验室检查资料.结果 217例患儿中男女比例为1.11∶1,中位发病年龄为3岁5个月（6个月～16岁9个月）,发病高峰年龄为1～5岁（占61.3％）.感染相关HLH最多见（占77％,其中92.2％为EB病毒感染）,其余为肿瘤相关HLH、自身免疫性疾病相关HLH等.临床以持续高热（100.0％）、肝脏肿大（92.6％）、脾脏肿大（88.4％）为突出表现,超过半数患儿有中枢神经系统及呼吸系统受累表现.实验室检查结果显示铁蛋白升高最为显著（98.0％）,其次为骨髓噬血现象（90.7％）及凝血功能障碍（76.5％）;所有患儿均有不同程度的肝功能损害;外周血淋巴细胞分类异常常见.结论 HLH是一组异质性疾病,病因及临床表现多样;HLH-2004诊断方案对于诊断HLH有其理论基础及临床可操作性;肝功能损害相关指标、外周血淋巴细胞分类、中枢神经系统和呼吸系统受累表现对HLH的诊断具有参考价值.

Objective To investigate the incidence,clinical symptoms,signs and laboratory features of childhood hemophagocytic lymphohistiocytosis （HLH） in China.Methods A retrospective study was performed on 217 pediatric patients with HLH who were admitted to Children＇ s Hospital of Chongqing Medical University from January 2006 to April 2013.All patients＇ medical records were reviewed and analyzed.Results The Male to female ratio was 1.11 ∶ 1.The median onset age was 3 years and 5 months old （range of 6 months old to 16 years and 9 months old）,and the age of onset peaked between 1-5 years old （61.3％）.The most common causes of HLH was infection,especially Epstein-Barr virus-associated HLH （71.0％）.Other causes included malignant hemophagocytic syndrome （MAHS）,macrophage activation syndrome （MAS） and so on.The outstanding clinical manifestations including persistent fever （100.0％）,hepatomegaly （92.6％）,splenomegaly （88.4％）,and more than half of cases with central nervous system involvement and pulmonary manifestations.Laboratory data indicated that the most prominent abnormality was elevated ferritin （98.0％）,and the others were hemophagocytosis in bone marrow （90.7％） and coagulation abnormalities （76.5％）.Abnormal lymphocytes classification is very common in HLH.Conclusions HLH is a heterogeneous disease,with a variety of the etiology and clinical manifestations.HLH-2004 diagnostic protocol had theoretical basis and clinical operability.The hepatitis damages related indicators,lymphocytes classification,central nervous system involvement and pulmonary performance can be used as reference value for HLH diagnosis.