摘要
目的探讨抗-M引起的新生儿溶血病合并丙酮酸激酶缺乏症(PKD)的临床及遗传学特点。方法回顾分析1例不明原因反复妊娠晚期不良妊娠结局的孕妇临床资料,对其胎儿进行跟踪调查,监测贫血状态、输血情况等。在知情同意情况下,采集患儿及父母外周血进行血型和血型抗体检测、新生儿溶血病检测及疾病相关基因目标序列捕获和测序。复习相关文献,总结MN新生儿溶血病及PKD疾病临床及遗传学特点。结果患儿出生时表现重度贫血、肝脾肿大、高胆红素血症,血清学检测证实存在MN合并ABO新生儿溶血病。经换血、光疗等治疗痊愈出院后患儿表现出每月输血治疗需要,诊断为溶血性贫血。基因检测分析发现患儿PKLR基因存在复合杂合突变:c.1096C>T杂合突变及c.941T>C杂合突变。且复合杂合突变分别遗传自父亲和母亲。结论抗-M引起的严重新生儿溶血病的早期临床表现与丙酮酸激酶缺乏症有类似处,临床及输血科对抗-M引起的严重新生儿溶血病的诊断应结合基因学检测排除红细胞代谢异常疾病。
Objective To investigate the clinical and genetic characteristics of hemolytic disease of the newborn(HDN)induced by anti-M complicated with pyruvate kinase deficiency(PKD)disease.Methods The clinical data of a pregnant woman with unexplained adverse pregnancy outcome in the third trimester were retrospectively analyzed,and neonate anemia status and blood transfusion were followed up.With informed consent,peripheral blood of the neonate and her parents were collected for serological tests and disease-related gene target sequence capture and sequencing.The clinical and genetic characteristics of HDN induced by anti-M or PKD were reviewed.Results The neonate presented severe anemia,hepatosplenomegalism,hyperbilirubinemia at birth,and was confirmed MN combined with ABO neonatal hemolysis by serological tests.The neonate recovered by receiving blood exchange and phototherapy treatments,but he needed to receive blood transfusion each month because of hemolytic anemia.Genetic analysis showed that the neonate had compound heterozygous mutations(c.1096C>T;c.941T>C)ofPKLRgene inherited from her parents.Conclusion The clinical manifestations of PKD are similar to that of HDN caused by anti-M in the early stage of the disease.Clinicians should exclude the metabolic diseases of red blood cells when diagnosing severe HDN caused by anti-M.
作者
李小燕
赖小丽
王丹
张利娜
曾选
LI Xiaoyan;LAI Xiaoli;WANG Dan;ZHANG Lina;ZENG Xuan(Matemal and Child Health Hospital of Jiangxi Province,Nanchang 330006,China;Jiangxi Provincial People’s Hospital)
出处
《中国输血杂志》
CAS
2022年第3期249-253,共5页
Chinese Journal of Blood Transfusion
基金
江西省卫生健康委员会科技计划项目(202110088)。
