Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Division of Nephrology, Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Kidney Res Clin Pract. 2014 Jun;33(2):112-5. doi: 10.1016/j.krcp.2014.04.002. Epub 2014 Jun 3.
Fanconi syndrome (FS) is a rare condition that is characterized by defects in the proximal tubular function. A 48-year-old woman was admitted for evaluation of proteinuria. The patient showed normal anion gap acidosis, normoglycemic glycosuria, hypophosphatemia, and hypouricemia. Thus, her condition was compatible with FS. The M peak was found behind the beta globulin region in urine protein electrophoresis. Upon bone marrow examination, we found that 24% of cells were CD138+ plasma cells with kappa restriction. From a kidney biopsy, we found crystalline inclusions within proximal tubular epithelial cells. Thereafter, she was diagnosed with FS accompanied by multiple myeloma. The patient received chemotherapy and autologous stem cell transplantation, and obtained very good partial hematologic response. However, proximal tubular dysfunction was persistent until 1 year after autologous stem cell transplantation. In short, we report a case of FS accompanied by multiple myeloma, demonstrating crystalline inclusion in proximal tubular cells on kidney biopsy.
范可尼综合征(FS)是一种罕见的疾病,其特征为近端肾小管功能缺陷。一位 48 岁女性因蛋白尿就诊。患者表现为正常阴离子间隙酸中毒、血糖正常性糖尿、低磷血症和低尿酸血症。因此,她的情况符合 FS。尿蛋白电泳中发现 M 峰位于β球蛋白区后。骨髓检查发现 24%的细胞为 CD138+浆细胞,κ 受限。肾活检发现近端肾小管上皮细胞内有结晶包涵体。此后,她被诊断为 FS 合并多发性骨髓瘤。患者接受了化疗和自体造血干细胞移植,获得了非常好的部分血液学缓解。然而,自体造血干细胞移植后 1 年,近端肾小管功能仍持续异常。总之,我们报告了一例 FS 合并多发性骨髓瘤,肾活检显示近端肾小管细胞内有结晶包涵体。