视网膜色素变性合并系统性轻链淀粉样变性(AL淀粉样变性)

S. Bouomrani, F. Saadaoui, N. Ayadi
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引用次数: 0

摘要

色素性视网膜炎(RP)或遗传性视网膜营养不良是一种罕见的疾病,可以是孤立的(非综合征性RP)或与其他系统性体征(综合征性RP)相关。肾损害在RP患者中有特别的报道,特别是在综合征形式中。与肾淀粉样变的关联仍然不常见,仅报道了一例RP和遗传性凝胶淀粉样变,原因是G654A凝胶突变定义了新的Ardalan-Shoja-Kiuru综合征。除了这篇文章,没有发现RP和AL淀粉样变相关的病例。我们报告一个原始的病例肾脏损害揭示kappa型系统性轻链淀粉样变性(AL淀粉样变性)在35岁的男性散发性RP。据我们所知,我们的观察是第一个报告这种联系的。
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Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)
Retinitis pigmentosa (RP) or hereditary retinal dystrophy is a rare disease that can be isolated (non-syndromic RP) or associated with other systemic signs (syndromic RP). Kidney damage is exceptionally reported in patients with RP, particularly in syndromic forms. Association with renal amyloidosis remains unusual with only one reported case of RP and hereditary gelsolin amyloidosis due to a G654A gelsolin mutation defining the new syndrome of Ardalan-Shoja-Kiuru. Apart from this publication, no case associating RP and AL amyloidosis has been found. We report an original case of renal damage revealing kappa-type systemic light chains amyloidosis (AL amyloidosis) in 35-year-old man with sporadic RP. Our observation is, to our knowledge, the first to report this association.
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