Fabry病1例报道并文献复习

Fabry disease: a case report and review of literature

目的 探讨Fabry病的临床病理特征、诊断及鉴别诊断。方法 报道 1例罕见的Fabry病肾损害 ,结合文献对该病的临床表现、组织形态学特点、免疫组化及治疗和预后进行探讨。结果 光镜下肾小球、肾小管、肾间质及血管等多种细胞内均见多少不等的泡沫状微小空泡 ,其中以肾小球脏层上皮细胞和远曲小管、集合管上皮细胞最明显。锇酸固定环氧树脂包埋、半薄切片天青美蓝染色中 ,微小空泡呈嗜蓝色、深浅不一的颗粒状物 ;电镜下为致密不规则的嗜锇性髓鞘样包涵小体 ,圆形 ,明暗相间 ,板层状 ,外有单位膜包绕 ,大小为 0 3～ 10 μm。结论 Fabry病是X染色体连锁遗传的α 半乳糖苷酶缺乏性疾病 ,嗜锇性髓鞘样包涵小体是其特征性结构 ,确诊需依靠电镜及测定血清α 半乳糖苷酶水平。

Objective To study the clinical and pathological features, diagnosis and classification of Fabry disease (FD). Methods The clinical manifestations, histopathological features, immunohistochemistry, t reatment and prognosis were analyzed in one case of renal lesion of Fabry diseas e with review of the literature. Results The foamy vacuolation was observed in various intracytoplasm of the glomerali, t ubules, interstitium and blood vessels by light microscopic findings of the rena l biopsy specimens, most numerous in visceral epithelial cells of glomerali and e pithelial cells of distal tubules and collecting dusts. The involved cells presented blue and granular substances within the vacuoles wi th azure-methylene blue staining. In electron microscopy, electron-dense, irre gularly shaped osmiophilic, myelin-like inclusion bodies were seen in kidney ti ssues. These inclusions were round-shaped, arranged with clear and dark layers , lamellar, surrounded by single unit membranes and in different size from 0.3 ?μm to 10?μm. Conclusion Fabry disease is a rare hereditary disease transmitted as an X-linked recessive t rait with the metabolic defect of an enzyme alpha-galaetosidase A. The accumula tion of osmiophilic myelin-like inclusion bodies is characteristic of Fabry disease. Diagnosis of FD is always based on electron microscopy and level of serum alpha-galaetosidase A.