漿細胞骨髓瘤引起類澱粉沉積症併發腎病症候群與限制性心肌症－－個案報告

Nephrotic Syndrome and Restrictive Cardiomyopathy Complicating Amyloidosis in Plasma Cell Myeloma: Case Report

由於原發性類澱粉沉積症是罕見而且無特殊疾病表徵，因此是相當困難診斷的疾病。病人若有限制性心肌症合併腎病症候群，就要考慮原發性類澱粉沉積症列為診斷。53歲男性病患由於運動性呼吸困難與胸部不舒服長達兩個月，同時合併腎臟與心臟症狀出現時，系統性Lambda(λ)輕鏈類澱粉沉積症就要列入考慮。大部分病人沒被診斷出來；只有在病人無法確定診斷同時合併器官衰竭時，類澱粉沉積症才有可能列入考慮。我們的研究提供文獻回顧與顯微鏡檢查圖片顯示均質之無定形沉積物與類澱粉纖維。因為這些病人需要儘早擬定治療方針，所以及早診斷是非常重要的，特別是臨床症狀嚴重但是診斷不明確的病人。

Primary amyloidosis is an uncommon systemic disorder which is difficult to diagnose due to the presentation of unspecific forms. Amyloidosis may be found in patients with restrictive cardiomyopathy associated with nephrotic syndrome. Herein we present a case involving a 53-year-old man presenting dyspnea on exertion and chest discomfort that had lasted two months. A diagnosis of lambda-chain systemic amyloidosis including cardiac and renal involvements was made. This entity in underdiagnosed in most patients, and its diagnosis is only considered when the patient presents organ damage with diagnostic difficulties. In this case study, we also comprehensively review relevant literature and share microscopic images showing amorphous depositions and amyloid fibrillar appearance. We concluded that a timely diagnosis is very important, particularly in patients with severe clinical features of unknown cause. Early therapeutic strategies are necessary.