Division of Nephrology and Hypertension, University of Minnesota, Minneapolis.
Division of Nephrology, West Virginia University, Morgantown, WV.
Adv Kidney Dis Health. 2024 Jul;31(4):334-345. doi: 10.1053/j.akdh.2024.02.001.
Amyloidosis is a complex group of rare disorders characterized by the deposition of misfolded proteins in the extracellular space of various tissues and organs, leading to progressive organ dysfunction. The kidneys constitute a very common site affected, most notably by immunoglobulin-mediated (light chain, heavy chain, and light and heavy chain amyloidosis), but other types that include serum amyloid A (AA) amyloidosis and leukocyte chemotactic factor 2 amyloidosis, along with mutant proteins in several hereditary forms of amyloidosis such as transthyretin, fibrinogen α-chain, gelsolin, lysozyme, and apolipoproteins AI/AII/AIV/CII/CIII amyloidosis have been incriminated as well. The clinical presentation is variable and can range from minimal proteinuria for leukocyte chemotactic factor 2 amyloidosis to a full-blown nephrotic syndrome for AA amyloidosis. Clinical correlation, genetic analysis, and adequate tissue typing through a kidney biopsy are essential to make the correct diagnosis, especially when a family history of amyloidosis is absent. Except for AA and transthyretin amyloidosis, the treatment is usually purely supportive. Kidney transplantation is an acceptable form of treatment for end-stage kidney disease in all types of non-Ig-mediated renal amyloidosis.
淀粉样变性是一组罕见疾病，其特征为错误折叠的蛋白质在各种组织和器官的细胞外空间沉积，导致进行性器官功能障碍。肾脏是受影响的常见部位之一，最常见的是免疫球蛋白介导的（轻链、重链和轻链和重链淀粉样变性），但其他类型的淀粉样变性包括血清淀粉样 A (AA) 淀粉样变性和白细胞趋化因子 2 淀粉样变性，以及几种遗传性淀粉样变性中的突变蛋白，如转甲状腺素蛋白、纤维蛋白原α链、胶凝蛋白、溶菌酶和载脂蛋白 AI/AII/AIV/CII/CIII 淀粉样变性也被认为是病因。临床表现多种多样，从白细胞趋化因子 2 淀粉样变性的微量蛋白尿到 AA 淀粉样变性的完全肾病综合征不等。临床相关性、遗传分析和通过肾脏活检进行充分的组织分型对于做出正确的诊断至关重要，尤其是当家族中没有淀粉样变性病史时。除 AA 和转甲状腺素蛋白淀粉样变性外，治疗通常仅为支持性治疗。对于所有类型的非免疫球蛋白介导的肾淀粉样变性，肾移植是终末期肾病的一种可接受的治疗形式。
