新生儿血小板无力症1例并文献复习

Neonatal Glanzmann thrombasthenia:a case report and literature review

目的:探讨新生儿血小板无力症的临床特征和基因变异特点。方法:对南京医科大学附属苏州医院新生儿科收治的1例新生儿血小板无力症患儿的临床资料进行回顾性分析。以“新生儿”、“血小板无力症”、“neonate”、“newborn”、“glanzmann thrombasthenia”为检索词对中国知网、万方数据库、维普、中华医学期刊网、PubMed、Embase数据库收录的文献进行检索,分析总结该病的临床特征和遗传学特点。结果:本例患儿为足月男婴,生后半小时出现头颅包块伴瘀斑瘀点,渐出现帽状腱膜下出血、重度贫血,血小板计数、血小板体积、凝血功能正常,血小板聚集试验提示花生四烯酸和二磷酸腺苷诱导的血小板聚集率下降,基因检测发现患儿ITGA2B基因存在c.886G>A(p.Gly296Arg)、c.2855dup(p.Phe953Valfs*83)两个杂合变异。共检索到42篇文献,结合本例,共44例血小板无力症患儿,其中33例(75.0%)在生后1 d出现皮肤瘀斑、瘀点;13例患儿有详细资料记录,5例重度贫血,均予输注悬浮红细胞和血浆,其中1例输注血小板,发生基因纯合变异、复合杂合变异各4例,10例有随访记录,2例随访期间无出血,其余8例出血程度轻重不一,无死亡病例。结论:对生后早期以瘀斑、瘀点为主要表现的新生儿,应考虑到血小板无力症可能;符合输血指征时,输血为新生儿期治疗的较佳选择。

Objective To study the clinical features and genotypes of neonatal Glanzmann thrombasthenia(NGT).MethodsA male neonate with NGT admitted to the Department of Neonatology of our hospital was retrospectively reviewed. CNKI, Wangfang database, VIP, the Chinese Medical Journal Full Text database, PubMed and Embase database were searched using key words '(neonate OR newborn) AND (Glanzmann thrombasthenia)' both in English and Chinese. The clinical features and genotypes of NGT were summarized and analyzed.ResultsA male full-term neonate was admitted to our hospital for mass on the forehead and ecchymosis and petechiae on the body within half an hour after birth. He gradually developed subgaleal hemorrhage and severe anemia. Platelet count, mean platelet volume and coagulation functions were normal. The platelet aggregation test indicated decreased platelet aggregation rate induced by arachidonic acid and adenosine diphosphate. Genetic testing revealed two heterozygous mutations in the patient's ITGA2B gene: NM_000419.4: c.886G>A(p.Gly296Arg) and NM_000419.4: c.2855dup(p.Phe953Valfs*83). A total of 42 literature involving 44 patients (our case included) with NGT were retrieved. 33 cases (75.0%) of NGT showed ecchymosis or petechiae on the first day after birth. For 13 cases with detailed information, 5 cases with severe anemia were given erythrocyte and plasma transfusion and platelet transfusion was given in 1 case. 4 cases had homozygous variants and 4 cases showed compound heterozygous variants. 10 cases had follow-up records, including 2 cases without any bleeding and 8 cases with varying degrees of bleeding during follow-up. No deaths were reported.ConclusionsNeonates with ecchymosis and petechiae in the early postnatal period should be suspected of NGT. Blood transfusion is preferred when the indication for transfusion is met.