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严重新生儿血小板减少症与抗 HPA-4b 同种异体抗体有关:第三位在高加索裔母亲中描述的病例。

Severe neonatal thrombocytopenia due to anti-HPA-4b alloantibodies: Third report described in a Caucasian mother.

机构信息

Hospital Saint-Antoine, National Reference Center for Perinatal Hemobiology, Paris, France.

INSERM, UMR_S1134, Paris, France.

出版信息

Transfusion. 2024 Jun;64(6):1167-1170. doi: 10.1111/trf.17863. Epub 2024 May 1.

DOI:10.1111/trf.17863
PMID:38693097
Abstract

BACKGROUND

Fetal and Neonatal Alloimmune Thrombocytopenia (FNAIT) results from maternal platelet alloimmunization against paternal antigens inherited by the fetus, most often due to the Human Platelet Antigen (HPA)-1 system in Caucasians. We investigated in 2023, a 30-year-old Caucasian woman Gravida 2 Para 1 who gave birth at 35 weeks of gestation to a male (body weight 2210 g) without signs of bleeding. A severe thrombocytopenia (platelet count at 3 G/L) was discovered incidentally a few hours after delivery in the context of the management of a respiratory distress. The newborn recovered after one platelet concentrate transfusion and normalized his platelet count at Day 5.

STUDY DESIGN AND METHODS

FNAIT investigation was performed according to guideline recommendations. Platelet genotyping was carried out by multiplex PCR. Maternal serological investigation included Monoclonal Antibody-specific Immobilization of Platelet Antigens method (MAIPA) and Luminex technology.

RESULTS

Parental and newborn genotyping pointed out an HPA-4 incompatibility between the mother and the newborn and the father. Serological investigation revealed an anti-HPA-4b alloantibody confirming the diagnosis of neonatal alloimmune thrombocytopenia.

CONCLUSION

We described the third case of anti-HPA-4b alloantibody discovered in a Caucasian mother. This case strengthens the need for reference laboratory to genotype a panel of HPA alleles reflecting local genetic population diversity and for crossmatch of maternal serum with fresh paternal platelets in clinical suspected cases of neonatal alloimmune thrombocytopenia.

摘要

背景

胎儿和新生儿同种免疫性血小板减少症(FNAIT)是由于母体对胎儿从父亲那里继承的血小板同种抗原产生血小板同种免疫引起的,在白种人中最常见的是由于人类血小板抗原(HPA)-1 系统。我们在 2023 年调查了一位 30 岁的白人妇女,她是第 2 次怀孕,第 1 次分娩,孕 35 周时生下一名男婴(体重 2210 克),没有出血迹象。在处理呼吸窘迫时,分娩后几小时偶然发现新生儿严重血小板减少症(血小板计数为 3 G/L)。在接受一次血小板浓缩物输注后,新生儿恢复,血小板计数在第 5 天恢复正常。

研究设计和方法

根据指南建议进行 FNAIT 调查。通过多重 PCR 进行血小板基因分型。母体血清学调查包括单克隆抗体特异性血小板抗原固定化法(MAIPA)和 Luminex 技术。

结果

父母和新生儿的基因分型指出母亲和新生儿以及父亲之间存在 HPA-4 不相容性。血清学调查显示存在抗-HPA-4b 同种异体抗体,证实了新生儿同种免疫性血小板减少症的诊断。

结论

我们描述了在一位白人母亲中发现的第 3 例抗-HPA-4b 同种异体抗体。该病例强调了参考实验室对反映当地遗传人群多样性的 HPA 等位基因进行基因分型的必要性,以及在临床疑似新生儿同种免疫性血小板减少症的情况下对母体血清与新鲜父亲血小板进行交叉配型的必要性。

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