Grünfeld J P, Le Porrier M, Droz D, Bensaude I, Hinglais N, Crosnier J
Nouv Presse Med. 1975 Sep 13;4(29):2081-5.
We report the case of a renal transplantation performed with the kidney of an asymptomatic female carrier of Fabry's disease. The recipient, her daughter, had normal alpha-galactosidase levels. Eight years after transplantation, the characteristic lesions of the glomerular epithelial cells, noted as early as 11 days after transplantation, are unchanged on the successive biopsies. This observation suggests that 1) some heterozygotes (perhaps all of them) have glomerular changes, 2) the glomerular changes are not modified if the kidney is placed in a normal enzymatic "environment".
我们报告了一例使用法布里病无症状女性携带者的肾脏进行肾移植的病例。受者是其女儿，α-半乳糖苷酶水平正常。移植八年后，最早在移植后11天就已发现的肾小球上皮细胞特征性病变在后续活检中未发生变化。这一观察结果表明：1）一些杂合子（可能是所有杂合子）存在肾小球改变；2）如果将肾脏置于正常的酶“环境”中，肾小球改变不会被改变。
