Department of Nephrology, Osaka Medical College, Osaka, Japan.
Ren Fail. 2012;34(6):801-3. doi: 10.3109/0886022X.2012.673468. Epub 2012 Apr 10.
The presence of myeloid bodies in electron microscopy is a characteristic finding of Fabry's disease. Here, we present a male patient, whose renal biopsy findings suggested the coexistence of focal segmental glomerulosclerosis and Fabry's disease, because of the presence of segmental hyalinosis and/or sclerosis in glomeruli and myeloid bodies in electron microscopy. But finally, Fabry's disease was excluded as a diagnosis because the α-galactosidase A activity in leukocyte and plasma in this patient was within normal limits. After renal biopsy, although he received medication including steroid therapy, his renal function gradually decreased to end-stage renal failure and hemodialysis was initiated. Until now, he does not exhibit any specific symptoms. In conclusion, our case suggests that occasional myeloid bodies in renal biopsy specimens should be interpreted with caution.
电镜下髓样小体的存在是法布里病的特征性发现。在这里，我们介绍了一位男性患者，其肾活检结果提示局灶节段性肾小球硬化症和法布里病并存，因为肾小球存在节段性玻璃样变和/或硬化以及电镜下髓样小体。但最终排除了法布里病的诊断，因为该患者白细胞和血浆中的α-半乳糖苷酶 A 活性在正常范围内。肾活检后，尽管他接受了包括类固醇治疗在内的药物治疗，但他的肾功能逐渐下降至终末期肾衰竭，并开始进行血液透析。到目前为止，他没有表现出任何特定的症状。总之，我们的病例表明，肾活检标本中偶尔出现的髓样小体应谨慎解读。
