Bertrand Gerald, Bianchi Frederic, Alexandre Marie, Quesne Jeannine, Chenet Christophe, Martageix Corinne, Jallu Vincent, Kaplan Cecile
Platelet Immunology Unit, INTS, 6 rue Alexandre Cabanel, 75739 Paris Cedex 15, France.
Transfusion. 2007 Aug;47(8):1510-3. doi: 10.1111/j.1537-2995.2007.01291.x.
Fetal-neonatal alloimmune thrombocytopenia (FNAIT) linked to rare or private antigens is not a rare event.
Such a case discovered during the follow-up of a second child with jaundice with mild thrombocytopenia is reported here. Platelet (PLT) genotyping was performed by polymerase chain reaction (PCR)-sequence-specific primers method and PCR-restriction fragment length polymorphism (RFLP) analysis. Serologic investigation was done with the monoclonal antibody-specific immobilization of PLT antigens technique. Glycoprotein Ia-specific amplification and sequencing were performed for the polymorphism 807 (exon 7).
The mother was found to be HPA-13aaw, and the father HPA-13abw. A maternal alloantibody directed against HPA-13bw has been characterized, leading to the diagnosis of neonatal alloimmune thrombocytopenia.
This report provides further evidence that NAIT associated with low-frequency antigens is not restricted to single families. Therefore, laboratory investigation of a suspected case should be carried out in a specialist laboratory well experienced in optimal testing to propose appropriate management for the index case and subsequent pregnancies.
与罕见或私有抗原相关的胎儿 - 新生儿同种免疫性血小板减少症（FNAIT）并非罕见事件。
本文报告了在对第二例患有黄疸且血小板减少的患儿随访期间发现的此类病例。采用聚合酶链反应（PCR）-序列特异性引物法和PCR-限制性片段长度多态性（RFLP）分析进行血小板（PLT）基因分型。用血小板抗原特异性单克隆抗体固定技术进行血清学研究。对多态性807（外显子7）进行糖蛋白Ia特异性扩增和测序。
发现母亲为HPA-13aaw，父亲为HPA-13abw。已鉴定出一种针对HPA-13bw的母体同种抗体，从而诊断为新生儿同种免疫性血小板减少症。
本报告进一步证明与低频抗原相关的新生儿同种免疫性血小板减少症并不局限于单个家庭。因此，对于疑似病例的实验室检查应在经验丰富的专业实验室进行，以便为索引病例及后续妊娠提出适当的管理建议。
