新生儿同种免疫性血小板减少症血小板抗体的检测分析

Detection and analysis of platelet antibody in neonatal alloimmune thrombocytopenia

目的研究新生儿同种免疫性血小板减少症(NAIT)患者血小板相关性抗体情况。方法设计血小板同种抗体筛查方案,采用固相红细胞黏附实验方法进行抗体筛查,利用Luminex方法进行抗体鉴定,采用聚合酶链反应测序方法对1例患者及其家系进行CD36基因分析。结果36例NAIT疑似患者的抗体筛查中,直接抗球蛋白试验阳性为33例。抗体确认实验共发现14例抗HLA抗体和1例抗CD36抗体。分析1例抗CD36抗体患者家系,发现母亲存在c.-132A>C纯合突变,可引起母亲CD36表达缺陷;而患儿为c.-132A/C杂合型。结论血小板抗体筛查和鉴定技术可有效辅助诊断HLA、HPA、CD36抗体引起的NAIT。

Objective To explore the platelet antibody in the patients with neonatal alloimmune thrombocytopenia(NAIT).Methods A protocol for screening platelet antibody was designed and the antibody screening was performed with solid-phase red blood cell adherence method.The antibody identification was carried out by Luminex method.The sequences of CD36 gene in one patient and family members were analyzed by polymerase chain reaction sequence based typing.Results Thirty three cases were positive in the direct antiglobulin test for antibody screening among 36 patients with suspected NAIT.14 cases of anti-HLA antibodies and 1 case of anti-CD36 antibody were found in the antibody identification tests.A mutation of c.1-132 A>C of CD36 gene was found in the mother of one patient with anti-CD36 antibody,which led to CD36 deficiency in the mother.However,A/C Heterozygosity in the position c.1-132 of CD36 gene was found in the patient.Conclusion It can effectively diagnose NAIT caused by HLA,HPA and CD36 antibodies by platelet antibody screening and identification technology.