11例X-连锁无丙种球蛋白血症临床特点分析

Clinical features of 11 cases of X-linked agammaglobulinemia

目的总结X-连锁无丙种球蛋白血症（X—linkedagammaglobulinemia，XLA）患儿的临床特点，提高对本病的早期诊断率。方法回顾性分析2003年12月至2011年11月中国医科大学附属盛京医院住院的11例XLA患儿的临床资料，分析XLA的临床特点。结果11例XLA患儿首次出现症状年龄最早为0．4岁，最迟为4岁，平均2．4岁；初次诊断年龄3．5～13．0岁，平均7．0岁；63．6％（7／11）的患儿首次诊断年龄〉7岁；母系家族中男性有类似疾病史的患儿仅占18．2％（2／11）；2例因重症感染死亡，1例失访，其余8例均存活。11例（100％）患儿有呼吸道感染史，中耳炎及消化道感染率分别为．54．5％（6／11）和36．4％（4／11）。11例患儿血IgA、IgM、IgG较正常值均明显减低；其中9例血IgG均〈2g／L，其余2例血IgG均〈2．4g／L。外周血CDl9均≤1％，T细胞的突出表现为其中9例CD4／CD8比值倒置。11例患儿中8例经基因检测确诊为XLA。结论XLA患儿发病年龄相对较早，初诊年龄相对较晚；感染主要以呼吸系统为主，中耳炎及消化道感染亦较为常见，未见有关节炎表现；有明确家族史者甚少；早期诊断、静脉注射人丙种球蛋白长期维持治疗可改善预后。

Objective To investigate the clinical features of X-linked agammaglobulinemia （XLA） in children, and to improve the early diagnostic rate. Methods The medical records of 11 children with XLA between Dec 2003 and Nov 2011 were reviewed. Results The smallest age of 11 cases with XLA presenting the first symptoms was 0.4 years old and the oldest age was 4 years old with a mean of 2.4 years old. The first diagnosis time was at the age of 3.5 to 13 years old, with a mean of 7 years old. The age at first diagno- sis in 63.6% （7/11 ） of patients was more than 7 years old. Two patients （ 18. 2% ） had the family history of the similar disease. Two patients were died from the infection and 1 patient was missed. The other 8 patients were survived. Respiratory infections occurred in 100 % of the 11 patients. 54. 5 % （6/11）of the patients were suffered with otitis media and digestive infections were seen in 36.4% （4/11） of the patients. The levels of IgA, IgM and IgG in the serum of the patients were all decreased. The levels of IgG in the serum of 9 patients were less than 2 g/L and in the serum of the other 2 patients were less than 2.4 g/L. The levels of CD19 in the serum were all less than 1% and an inversed ratio of CD4/CD8 was observed in 9 patients. Eight patients were diagnosed as XLA by gene detection. Conclusion The age presenting first symptoms in children with XLA in this study is earlier than the reported data and the age at first diagnosis is later. Respiratory infection is the most common manifestation. High prevalence of otitis media and digestive infections are common. The patients with XLA rarely have the family history. The early diagosis and long-term treatment with the intrave- nous immunoglobulin may improve the prognosis of XLA.