13例Wiskott-Aldrich综合征临床特征分析

目的 研究Wiskott-Aldrich综合征（WAS）患儿的临床特征。方法 对13例WAS患儿的临床资料进行回顾性分析。结果 13例患儿均为男性，发病年龄3（1~48）月，确诊年龄24（1~60）月。13例患儿中仅3例为典型WAS，余10例均为X-连锁血小板减少症（XLT）。WAS评分为2（1~3）分，血小板计数为20.5（13~46）×10⁹/L，平均血小板体积为8.1（6.7~12.1） fl。4例患儿行淋巴细胞亚群及免疫球蛋白检查，其中淋巴细胞占有核细胞百分比及CD3⁺T细胞占淋巴细胞百分比均减低者1例（25%）；CD3^-CD56⁺NK细胞占淋巴细胞百分比减低者1例（25%）；IgG升高者1例（25%），IgM下降者2例（50%），IgA下降者1例（25%），4例患儿IgE均升高（100%）。13例患儿共发现13种14个基因突变，其中错义突变9例（65%），剪接突变2例（14%），无义突变2例（14%），移码突变1例（7%）。随访39（3~62）个月，13例患儿均存活。结论 Wiskott-Aldrich综合征发病年龄小，男性为主，主要临床特征为血小板减少伴血小板体积缩小，基因突变以错义突变为主。

Clinical features of Wiskott-Aldrich syndrome: an analysis of 13 cases

Objective To study the clinical features of Wiskott-Aldrich syndrome (WAS) in children. Methods A retrospective analysis was performed for the clinical data of 13 children with WAS. Results All 13 children were boys, with a median age of onset of 3 months (range 1-48 months) and a median age of 24 months (range 1-60 months) at the time of diagnosis. Of the 13 children, only 3 had typical WAS and the remaining 10 children had X-linked thrombocytopenia (XLT). The mean WAS score was 2 (range 1-3), the mean platelet count was 20.5×109/L[range (13-46)×109/L], and the mean platelet volume was 8.1 fl (range 6.7-12.1 fl). Lymphocyte subsets and immunoglobulins were measured for 4 children, among whom 1 (25%) had a reduction in both the percentage of CD3+T cells per lymphocyte and lymphocyte per nuclear cells, 1(25%) had a reduction in CD3-CD56+ NK cells. Among these 4 children, 1 (25%) had an increase in IgG, 2 (50%) had a reduction in IgM, 1 (25%) had a reduction in IgA, and 4 (100%) had an increase in IgE. A total of 14 gene mutations belonging to 13 types were found in 13 children, among which there were 9 missense mutations (65%), 2 splicing mutations (14%), 2 nonsense mutation (14%), and 1 frameshift mutation (7%). The median follow-up time was 39 months (range 3-62 months), and all 13 children survived. Conclusions Children with WAS often have a young age of onset, and most of them are boys. Major clinical features include thrombocytopenia with a reduction in platelet volume. Missense mutation is the main type of gene mutation.