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非典型溶血尿毒综合征的眼部受累情况。

Ocular involvement in atypical haemolytic uraemic syndrome.

作者信息

Sampedro López A, Domínguez Moro B, Baltar Martin J M, Garcia Monteavaro C, Barbón García J J

机构信息

Servicio de Oftalmología, Hospital San Agustín, Avilés, Asturias, España.

Servicio de Oftalmología, Hospital San Agustín, Avilés, Asturias, España.

出版信息

Arch Soc Esp Oftalmol. 2017 Dec;92(12):594-597. doi: 10.1016/j.oftal.2017.02.007. Epub 2017 Mar 24.

Abstract

CASE REPORT

The case is presented of a young man with an atypical haemolytic-uraemic syndrome (aHUS), complicated with bilateral serous retinal detachment, cotton wool spots, and a branch artery occlusion. Treatment with plasmapheresis, haemodialysis and systemic eculizumab led to the blood and urine parameters returning to normal, as well as resolution of the retinal anomalies. Genetic analysis show both mutations in complement factor H and C3.

DISCUSSION

Haemolytic-uraemic syndrome (HUS) is a thrombotic microangiopathy characterised by microangiopathic haemolytic anaemia, thrombocytopenia, and acute renal failure. Atypical HUS is caused by genetic mutation of complement system. Ocular involvement is an unusual manifestation of this rare syndrome.

摘要

病例报告

本文介绍了一名患有非典型溶血尿毒综合征(aHUS)的年轻男性病例,该病例并发双侧浆液性视网膜脱离、棉絮斑和分支动脉阻塞。采用血浆置换、血液透析和全身性依库珠单抗治疗后,血液和尿液参数恢复正常,视网膜异常也得到缓解。基因分析显示补体因子H和C3均存在突变。

讨论

溶血尿毒综合征(HUS)是一种血栓性微血管病,其特征为微血管病性溶血性贫血、血小板减少和急性肾衰竭。非典型HUS由补体系统基因突变引起。眼部受累是这种罕见综合征的一种不寻常表现。

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