PDF(Pubmed)
Abstract：
Thrombocytopenia absent radius (TAR) syndrome is a rare genetic disorder that has been associated with food protein-induced allergic proctocolitis and transient leukemoid reactions, among other manifestations. There has been no prior reports of its association with autoimmune disease, more specifically, autoimmune hepatitis (AIH) or the development of pediatric acute liver failure (PALF). We present a case of an 8-month-old infant with TAR syndrome who presented with PALF, secondary to AIH with elevated liver-kidney microsomal antibody (>1:2560). She received a liver transplant and had a very complicated postoperative course including severe T-cell-mediated rejection, infection, biliary stricture, persistently elevated liver-kidney microsomal antibodies, and antibody-mediated rejection. Ultimately, these complications led to graft failure, severe sepsis, and death. This case highlights a new association of TAR syndrome with AIH and PALF and a potentially aggressive nature of AIH both pre- and post-transplant.
摘要：
桡骨血小板减少症（TAR）综合征是一种罕见的遗传性疾病，与食物蛋白引起的过敏性直肠结肠炎和短暂的类白血病反应有关。在其他表现中。以前没有关于其与自身免疫性疾病相关的报道，更具体地说,自身免疫性肝炎（AIH）或小儿急性肝衰竭（PALF）的发展。我们介绍了一个8个月大的TAR综合征婴儿的PALF，继发于AIH，肝肾微粒体抗体升高（>1：2560）。她接受了肝移植，术后过程非常复杂，包括严重的T细胞介导的排斥反应，感染,胆道狭窄,肝肾微粒体抗体持续升高，和抗体介导的排斥反应。最终,这些并发症导致移植失败，严重脓毒症,和死亡。该病例强调了TAR综合征与AIH和PALF的新关联，以及AIH在移植前后的潜在侵袭性。
