继发于阵发性夜间血红蛋白尿的视网膜中央静脉阻塞

Thiago Sande Miguel, Ermes Rodrigues Machado Filho, Bruna Sande Miguel, Daniel Almeida da Costa, Maurício B Pereira
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引用次数: 0

摘要

目的:描述继发于阵发性夜间血红蛋白尿的视网膜中央静脉阻塞。病例介绍:一名25岁,男性,学生,因阵发性夜间血红蛋白尿而定期使用Eculizumab,在血液学部门定期随访。他报告说,一个月前,他突然发现,早上醒来时,她的左眼模糊,视力下降。讨论:阵发性夜间血红蛋白尿(PNH)是一种获得性疾病,以溶血、血栓形成和骨髓衰竭为特征,由糖基磷脂酰肌醇锚定(gpi锚定)补体抑制剂表达缺陷引起。最常见的是,PNH是由PIGA功能丧失引起的,而PIGA功能是GPI生物合成所必需的。结论:有溶血性贫血、不明原因血栓形成(尤其是罕见部位)、细胞减少和骨髓衰竭综合征、吞咽困难、不明原因腹痛的患者应筛查PNH。PNH患者可以从现有的治疗中获益,减少严重后遗症的风险,并大大改善他们的生活质量。因此患者继续在眼科接受随访,病变同侧的视力下降,在那一侧有相对的瞳孔传入缺损。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Central Retinal Vein Occlusion Secondary to Paroxysmal Nocturnal Hemoglobinuria
Aims: To describe a Central Retinal Vein Occlusion Secondary to Paroxysmal Nocturnal Hemoglobinuria. Presentation of Case: A 25 years old, male, student, in regular follow-up in the Hematology sector due to Paroxysmal Nocturnal Hemoglobinuria in regular use of Eculizumab. He reports a month ago that he suddenly noticed, upon waking up in the morning, blurring and decreased visual acuity in her left eye. Discussion: Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder characterized by hemolysis, thrombosis, and bone marrow failure caused by defective expression of glycosylphosphatidylinositol-anchored (GPI-anchored) complement inhibitors. Most commonly, PNH is caused by the loss of PIGA function, which is necessary for GPI biosynthesis. Conclusions: Patients with hemolytic anemia, unexplained thrombosis, especially in uncommon sites, cytopenias and bone marrow failure syndromes, dysphagia, and unexplained abdominal pain should be screened for PNH. PNH patients can benefit greatly from the treatments available, with a reduction in the risk of serious sequelae and a considerable improvement in their quality of life. So that the patient continues to be followed up in the ophthalmology department, with decreased visual acuity ipsilateral to the lesion, with a relative afferent pupillary defect on that side.
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