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[弹性假黄瘤——即将出现的新型治疗方法?]

[Pseudoxanthoma elasticum-Novel therapeutic approaches on the horizon?].

作者信息

Meinke Jonathan, Raming Kristin, Pfau Maximilian, Holz Frank G, Pfau Kristina

机构信息

Universitäts-Augenklinik Bonn, Universität Bonn, Venusberg-Campus-1, 53127, Bonn, Deutschland.

Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel, F. Hoffmann-La Roche, Basel, Schweiz.

出版信息

Ophthalmologie. 2025 Jun;122(6):432-437. doi: 10.1007/s00347-025-02223-9. Epub 2025 May 28.

Abstract

Pseudoxanthoma elasticum (PXE) is an inherited mineralization disorder that leads to calcification of elastic fibers. The ocular characteristics arise due to the calcification of Bruch's membrane, which is located between the retinal pigment epithelium and the choriocapillaris. Despite major scientific progress in understanding the underlying pathological mechanism in recent years, no causal treatment has so far been established. Therefore, the management of patients is currently limited to the treatment of secondary complications, such as intravitreal anti-vascular endothelial growth factor (VEGF) injections in cases of exudative neovascularization. This article discusses upcoming studies that aim to reduce ectopic mineralization. To confirm the diagnosis and possible inclusion in such studies a second assessment should therefore be carried out in a specialized center for PXE.

摘要

弹性假黄瘤(PXE)是一种遗传性矿化障碍疾病,可导致弹性纤维钙化。眼部特征是由于位于视网膜色素上皮和脉络膜毛细血管之间的布鲁赫膜钙化所致。尽管近年来在理解潜在病理机制方面取得了重大科学进展,但迄今为止尚未确立因果性治疗方法。因此,目前对患者的管理仅限于治疗继发性并发症,例如在渗出性新生血管形成的情况下进行玻璃体内抗血管内皮生长因子(VEGF)注射。本文讨论了旨在减少异位矿化的即将开展的研究。因此,为了确诊并有可能纳入此类研究,应在专门的PXE中心进行第二次评估。

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