McNamara T E, Goodloe S, Butkus D E
Arch Pathol Lab Med. 1980 Jan;104(1):14-6.
Electron microscopy of renal biopsy specimens obtained from three patients revealed typical laminated electron-dense bodies (myeloid bodies) previously believed to be diagnostic of Fabry's disease. None of the patients manifested clinical features characteristic of this disorder, and in one patient leukocyte alpha-galactosidase levels were normal. In comparison with patients with either the heterozygous or homozygous expression of Fabry's disease, in our patients the myeloid bodies were much fewer in number. These observations suggest that the findings of occasional myeloid bodies in renal biopsy specimens should be interpreted with caution.
对三名患者的肾活检标本进行电子显微镜检查,发现了典型的层状电子致密小体(髓样小体),此前认为这些小体是法布里病的诊断依据。所有患者均未表现出该疾病的典型临床特征,其中一名患者的白细胞α-半乳糖苷酶水平正常。与法布里病杂合子或纯合子表达的患者相比,我们的患者中髓样小体的数量要少得多。这些观察结果表明,对肾活检标本中偶尔出现的髓样小体的发现应谨慎解读。