Serviço de Neurologia, Hospital Santo António, Porto, Portugal.
Seizure. 2011 Nov;20(9):738-40. doi: 10.1016/j.seizure.2011.06.018. Epub 2011 Jul 22.
Action myoclonus-renal failure syndrome (AMRF) is considered a rare form of progressive myoclonus epilepsy (PME) associated with renal failure. A mutation on the gene encoding the lysosomal integral membrane protein type 2-LIMP-2 (SCARB2), the receptor responsible for targeting glucocerebrosidase to the lysosomes, was recently described, allowing a better understanding of its etiopathogenesis. We describe clinically two sisters with AMRF that resulted from a mutation in the SCARB2 gene. The renal involvement was due to nephropathy C1q. When substrate-reduction therapy, to correct the possible glucocerebroside storage in the cells with glucocerebrosidase deficiency, was administered to one of the siblings, a significant improvement was observed. This report points out a rational for a therapeutical approach to this new lysossomopathy.
动作性肌阵挛-肾衰竭综合征（AMRF）被认为是一种罕见的与肾衰竭相关的进行性肌阵挛性癫痫（PME）形式。最近描述了编码溶酶体整合膜蛋白 2-LIMP-2（SCARB2）的基因的突变，该基因是负责将葡萄糖脑苷脂酶靶向溶酶体的受体，这使得对其发病机制有了更好的理解。我们描述了临床上 2 位 AMRF 姐妹，她们的发病与 SCARB2 基因突变有关。肾脏受累是由于 C1q 肾病。当对其中一位患者进行底物还原治疗以纠正葡萄糖脑苷脂酶缺乏症细胞中可能的葡萄糖脑苷脂储存时，观察到显著改善。该报告指出了针对这种新溶酶体病的治疗方法的合理性。
