Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
Department of Nephrology, Kathmandu Medical College and Teaching Hospital, Sinamangal, Kathmandu, Nepal.
JNMA J Nepal Med Assoc. 2023 Oct 1;61(266):822-824. doi: 10.31729/jnma.8297.
Primary systemic amyloidosis is a systemic disease characterised by the deposition of misfolded proteins extracellularly in different organs without any known cause in the background, eventually leading to multiorgan dysfunction and death. The incidence of primary amyloidosis is estimated at 5.1-12.8 cases per million, with a poor prognosis. We report a case of a 69-year male with lower back pain, shortness of breath, and anasarca diagnosed as primary systemic amyloidosis by serum-free light chain assay and kidney needle biopsy. He was started on intravenous bortezomib and dexamethasone. Though he adhered to his medications, with time he developed renal insufficiency marked by azotemia following which hemodialysis was performed. Primary systemic amyloidosis is a rare clinical condition with a very poor prognosis. Further studies are needed to understand the proper pathophysiology and treatment of the disease.
cardiomyopathies; case reports; primary amyloidosis.
原发性系统性淀粉样变是一种全身性疾病，其特征是在没有任何已知病因的背景下，蛋白质在细胞外异常折叠并在不同器官沉积，最终导致多器官功能障碍和死亡。原发性淀粉样变的发病率估计为每百万 5.1-12.8 例，预后不良。我们报告了一例 69 岁男性病例，其出现腰痛、呼吸急促和全身性水肿，通过血清游离轻链检测和肾脏活检诊断为原发性系统性淀粉样变。他开始接受静脉注射硼替佐米和地塞米松治疗。尽管他坚持服药，但随着时间的推移，他出现了肾功能不全，表现为氮质血症，随后进行了血液透析。原发性系统性淀粉样变是一种罕见的临床病症，预后非常差。需要进一步研究以了解该疾病的适当病理生理学和治疗方法。
心肌病；病例报告；原发性淀粉样变。
