Bridoux Frank, Nasr Samih H, Arnulf Bertrand, Leung Nelson, Sirac Christophe, Jaccard Arnaud
Department of Nephrology, Centre de référence maladies rares, Amylose AL et autres maladies par dépôts d'immunoglobulines monoclonales, Centre Hospitalier Universitaire Poitiers, Université de Poitiers, Poitiers, France.
Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
Hematology Am Soc Hematol Educ Program. 2024 Dec 6;2024(1):489-498. doi: 10.1182/hematology.2024000573.
Kidney disease is a common complication of monoclonal immunoglobulin (MIg)-secreting B-cell disorders and predominantly occurs in patients who do not meet the criteria for an overt hematological disease. To distinguish this situation from monoclonal gammopathy of undetermined significance, which lacks organ damage, the term monoclonal gammopathy of renal significance (MGRS) was introduced to depict the association of a small, otherwise indolent B-cell clone, with renal disease induced by the secreted MIg. The spectrum of renal disorders in MGRS is wide, encompassing both tubular and glomerular disorders, classified according to the composition of deposits and their ultrastructural pattern of organization. Renal lesions, independent of the tumor burden, are mostly governed by the molecular characteristics of the MIg variable domain and involve either direct (deposition or precipitation) or indirect (autoantibody activity, complement activation) mechanisms. The diagnosis, often suggested by careful analysis of renal and extrarenal symptoms, almost always requires histological confirmation by a kidney biopsy with light, immunofluorescence, and electron microscopy studies. Most patients do not have a known monoclonal gammopathy at presentation. Hematologic investigations should include serum and urine protein electrophoresis and immunofixation, serum-free light chain measurements, and bone marrow studies with flow cytometry and cytogenetics to determine the nature of the pathogenic clone (most commonly plasmocytic). Early diagnosis before the development of severe chronic kidney disease and rapid achievement of deep hematological response through clone-targeted chemotherapy (currently based on proteasome inhibitor and monoclonal anti-CD38 antibody-based combinations for plasma cell clones) are the main factors influencing long-term renal and patient outcomes.
肾脏疾病是分泌单克隆免疫球蛋白(MIg)的B细胞疾病的常见并发症,主要发生在不符合明显血液系统疾病标准的患者中。为了将这种情况与无意义单克隆丙种球蛋白病(后者无器官损害)区分开来,引入了具有肾脏意义的单克隆丙种球蛋白病(MGRS)这一术语,以描述一个小的、原本惰性的B细胞克隆与分泌的MIg诱导的肾脏疾病之间的关联。MGRS中的肾脏疾病谱很广,包括肾小管和肾小球疾病,根据沉积物的组成及其超微结构组织模式进行分类。肾脏病变与肿瘤负荷无关,主要由MIg可变区的分子特征决定,涉及直接(沉积或沉淀)或间接(自身抗体活性、补体激活)机制。诊断通常通过仔细分析肾脏和肾外症状来提示,几乎总是需要通过肾脏活检进行组织学确认,包括光镜、免疫荧光和电子显微镜检查。大多数患者在就诊时没有已知的单克隆丙种球蛋白病。血液学检查应包括血清和尿蛋白电泳及免疫固定、血清游离轻链检测,以及通过流式细胞术和细胞遗传学进行骨髓检查,以确定致病克隆(最常见为浆细胞克隆)的性质。在严重慢性肾脏病发展之前进行早期诊断,并通过针对克隆的化疗(目前基于蛋白酶体抑制剂和针对浆细胞克隆的单克隆抗CD38抗体组合)迅速实现深度血液学缓解,是影响长期肾脏和患者预后的主要因素。