一位33歲年輕男性以末期腎衰竭來表現

本篇個案是位33歲的年輕男性，因喘及水腫而住院。經抽血檢驗、尿液分析及腎臟超音波檢查， 發現是末期腎臟病患者合併高血壓與嚴重的蛋白尿，須長期接受透析治療。在排除可能的相關鑑別診斷後，經由酵素檢驗、基因分析及腎臟切片檢查，個案確診為法布瑞氏症。本文之目的在強調慢性腎臟病除了常見病因如糖尿病、高血壓及慢性腎絲球腎炎外，若為原因不明的早發性腎臟病變，尤其是發生在年輕男性，須考慮法布瑞氏症的可能性，並及早的接受酵素替代治療，以預防進一步的心臟及腦部病變。此外，也藉由基因篩檢，確診家族中其它法布瑞氏症患者，積極接受早期治療。因此，藉由這篇病例報告，希望醫護人員對法布瑞氏症有進一步的了解，以早期診斷、早期治療，及減少併發症與殘疾的發生。  The 33-years-old young male was hospitalized due to dyspnea and edema. The patient was diagnosed with end-stage renal disease, hypertension and heavy proteinuria requiring long term dialysis treat­ment. Other possible differential diagnosis were excluded and eventually Fabry disease was confirmed through enzyme assay, genetic analysis and kidney biopsy. The purpose of this study emphasizes on the need to consider the possibility of Fabry disease on young male with unknown reason younger-on­set kidney disease in addition to other causes of chronic kidney disease, such as DM, hypertension or chronic glomerulonephritis. Enzyme replacement therapy was administered as soon as possible to pre­vent pathological development of heart or brain. Furthermore, we also diagnosed other cases of Fabry disease in his family through Genetic Test and early treatments were provided. Therefore, we expected that Fabry disease will not be considered in clinical practice and early diagnosis with treatment could be provided to decrease the complication and disability rates.