Mosnier J F, Degott C, Bedrossian J, Molas G, Degos F, Pruna A, Potet F
Service d'Anatomie et de Cytologie Pathologiques, Hôpital Beaujon, Clichy, France.
Transplantation. 1991 Apr;51(4):759-62. doi: 10.1097/00007890-199104000-00004.
A case of Fabry's disease in a renal transplant recipient with a follow-up period of 11 years is reported. The patient suffered from renal, skin, peripheral nerve lesions, and asymptomatic cardiomegaly. Fabry's disease symptoms disappeared after transplantation. Improvement of renal function was rapidly observed, and it remained satisfactory during the whole posttransplantation period. The patient died of a severe, uncontrolled infection and of biliary peritonitis. Autopsy showed a polyvisceral accumulation of sphingolipids deposits. The engrafted kidney was histologically free of disease. Ultrastructurally, it revealed numerous sphingolipid inclusions in the endothelial cells of capillaries. The explanation of this complication could be attributed to: (1) high circulating levels of plasma substrates locally overwhelming the enzymatic capability of the graft endothelial cells; and (2) the endothelial cells originated from the recipient but not from the donor, an occurrence that has been described after transplantation. Rejection and the newly formed deposits in the endothelial cells may lead to the loss of the engrafted organ. As a consequence of the increasing possibility of organ transplantation, this complication should be detected by studying the blood vessels ultrastructurally in order to evaluate the condition of the transplant.
报告了1例肾移植受者的法布里病，随访期为11年。该患者患有肾脏、皮肤、周围神经病变及无症状性心脏肥大。移植后法布里病症状消失。肾功能迅速改善，且在整个移植后期间保持良好。患者死于严重的、无法控制的感染及胆汁性腹膜炎。尸检显示多脏器鞘脂沉积。移植肾组织学上无病变。超微结构显示毛细血管内皮细胞中有大量鞘脂包涵体。这种并发症的解释可能归因于：(1)血浆底物循环水平高，局部超过了移植肾内皮细胞的酶活性；(2)内皮细胞起源于受者而非供者，这种情况在移植后已有报道。排斥反应及内皮细胞中新形成的沉积物可能导致移植器官丧失。由于器官移植可能性增加，应通过超微结构研究血管来检测这种并发症，以评估移植情况。
