法布瑞氏腎病變

Fabry Nephropathy

王弘偉(Hung-Wei Wang) ； 王憲奕(Hsien-Yi Wang)

《腎臟與透析》 32卷4期 (2020/12) Pp. 209-214

https://doi.org/10.6340/KD.202012_32(4).0008

摘要

蛋白尿，在臨床上非常常見，原發腎臟病變如腎絲球腎炎或腎小管間質性腎炎，及系統性疾病影響腎臟如糖尿病或自體免疫疾病等，常常是需要考慮的鑑別診斷。法布瑞氏症，是一罕見的X染色體性聯遺傳疾病，因為酵素缺陷所導致醣酯質的堆積，導致全身多處系統受到影響，腎臟便是常受到傷害的器官之一，早期可能以微白蛋白尿或蛋白尿作表現。本篇文章以1位蛋白尿病人經由腎臟切片，進而診斷法布瑞氏腎病變為例，來探討法布瑞氏症跟法布瑞氏腎病變的致病機轉、臨床表現、相關的生物標記、病理組織的特色、治療及預後。

關鍵字

蛋白尿 ； 法布瑞氏症 ； 法布瑞腎病變

並列摘要

Proteinuria is a common finding in clinical practice. Kidney diseases such as glomerulonephritis, tubule-interstitial nephritis are differential diagnoses that need to be ruled out. Fabry disease, a rarely seen X-linked hereditary disease, which is caused by an enzyme deficiency, leads to the accumulation of glycolipids, ensued by systemic symptoms. The kidney is the one among the affected vital organs, microalbuminuria or proteinuria may present at the early stage of Fabry nephropathy. Herein, we present a case involving Fabry nephropathy in a man with a presentation of proteinuria undergoing renal biopsy. The pathogenesis, clinical manifestations, associated biomarkers, pathologic features, treatment, and prognosis of Fabry disease and Fabry nephropathy were reviewed.

並列關鍵字

proteinuria ； Fabry disease ； Fabry nephropathy