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双胞胎新生儿红斑狼疮的疾病表现不一致

Discordant disease expression of neonatal lupus erythematosus in twins.

作者信息

Mustafa Faiza, Najam Yawar, Akbar Mohammad Tauqeer, Ahmed Tahir Aziz

机构信息

Department of Paediatrics, Shifa International Hospital, Islamabad, Pakistan.

Department of Cardiothoracic Surgery, Shifa International Hospital, Islamabad, Pakistan.

出版信息

J Pak Med Assoc. 2017 Jun;67(6):939-941.

PMID:28585599
Abstract

Neonatal lupus erythematosus is an autoimmune disease resulting from the trans-placental passage of maternal anti-SSA/Ro, anti-SSB/La, and less frequently anti-RNP antibodies to the foetus. At the time of diagnosis 50% of mothers are asymptomatic. Neonatal manifestations of this multisystem disease may include congenital heart block, cutaneous lesions and haematological abnormalities. We present the case of congenital neonatal lupus erythematosus in non-identical twins, showing variability in clinical manifestation of this disease,despite receiving the same level of antibodies from the mother. This case adds to the growing body of evidence about the role of genetics and other feto-maternal contributing factors in addition to the presence of auto antibodies. It raises interesting questions about discordant disease expression in offspring's of the same mother.

摘要

新生儿红斑狼疮是一种自身免疫性疾病,由母体抗SSA/Ro、抗SSB/La抗体经胎盘传递给胎儿引起,抗RNP抗体经胎盘传递给胎儿的情况较少见。在诊断时,50%的母亲无症状。这种多系统疾病的新生儿表现可能包括先天性心脏传导阻滞、皮肤病变和血液学异常。我们报告了一对非同卵双胞胎患先天性新生儿红斑狼疮的病例,该病例显示尽管从母亲那里获得了相同水平的抗体,但这种疾病的临床表现存在差异。除自身抗体的存在外,该病例为越来越多关于遗传因素和其他母婴相关因素作用的证据增添了内容。它引发了关于同一母亲后代中疾病表现不一致的有趣问题。

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