Hereditary transthyretin amyloidosis (ATTRv) is a rare, progressive, and life-threatening disease caused by misfolded transthyretin (TTR) proteins that aggregate as abnormal amyloid fibrils and accumulate throughout the body. The kidney is one of the main organs affected in amyloid light chain (AL) amyloidosis and ATTRv amyloidosis. The most common clinical presentation is proteinuria, which consists mainly of albumin; this is the first step in the natural history of ATTRv nephropathy. Not all TTR mutations are equal in terms of ATTRv kidney involvement. Kidney involvement in ATTRv itself is difficult to define, given the numerous associated confounding factors. There are several treatments available to treat ATTRv, including orthotopic liver transplant (OLT), which is the classic treatment for ATTRv. However, we should be careful regarding the use of calcineurin inhibitors in the setting of OLT because these can be nephrotoxic. New treatments for amyloidosis may have an impact on kidney function, including drugs that target specific pathways involved in the disease. Tafamidis and diflunisal, which are TTR stabilizers, patisiran (RNA interference agent), and inotersen (antisense oligonucleotide inhibitor) have been shown to reduce TTR amyloid. Tafamidis and patisiran are medications that have reduced the progression of kidney disease in amyloidosis, but inotersen and diflunisal may damage kidney function.

中文翻译：

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遗传性运甲状腺素蛋白淀粉样变性以及经典和新疗法对肾功能的影响：综述

遗传性转甲状腺素蛋白淀粉样变性 (ATTRv) 是一种罕见的进行性危及生命的疾病，由错误折叠的转甲状腺素蛋白 (TTR) 蛋白引起，这些蛋白聚集为异常淀粉样原纤维并在全身累积。肾脏是淀粉样轻链（AL）淀粉样变性和 ATTRv 淀粉样变性受影响的主要器官之一。最常见的临床表现是蛋白尿，主要由白蛋白组成；这是 ATTRv 肾病自然史的第一步。并非所有 TTR 突变在 ATTRv 肾脏受累方面都是相同的。考虑到众多相关的混杂因素，ATTRv 中的肾脏受累本身就很难定义。有多种治疗 ATTRv 的方法，包括原位肝移植 (OLT)，这是 ATTRv 的经典治疗方法。然而，我们在 OLT 中使用钙调神经磷酸酶抑制剂时应小心，因为它们可能具有肾毒性。淀粉样变性的新疗法可能会对肾功能产生影响，包括针对与该疾病有关的特定途径的药物。 Tafamidis 和 diflunisal（TTR 稳定剂）、patisiran（RNA 干扰剂）和inotersen（反义寡核苷酸抑制剂）已被证明可以减少 TTR 淀粉样蛋白。 Tafamidis 和 patisiran 是可以减缓淀粉样变性肾脏疾病进展的药物，但inotersen 和 diflunisal 可能会损害肾功能。