Cardoso Brigite Aguiar, Leal Rita, Sá Helena, Campos Mário
Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Department of Nephrology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
BMJ Case Rep. 2016 Mar 10;2016:bcr2016214392. doi: 10.1136/bcr-2016-214392.
AL amyloidosis is a clonal plasma cell proliferative disorder characterised by extracellular tissue deposits of insoluble fibrils derived from κ or λ immunoglobulin light chains. The most common organs affected by AL amyloidosis are the kidney, presenting with nephrotic syndrome and/or progressive renal dysfunction, and the heart, with restrictive cardiomyopathy. Hepatic deposition of fibrils occurs in half the cases but the liver is rarely the predominantly affected organ. The most common presentation of hepatic amyloidosis is hepatomegaly with elevated alkaline phosphatase. Acute liver failure with cholestasis and jaundice is a rare complication, with a prevalence of approximately 5%, and is usually associated with a worse prognosis. We report a case of a 39-year-old man admitted to our nephrology department with an unusual presentation of primary amyloidosis with nephrotic syndrome and acute liver failure, complicated by obstructive cholestasis resulting in death 2 months after diagnosis.
AL淀粉样变性是一种克隆性浆细胞增殖性疾病,其特征是κ或λ免疫球蛋白轻链来源的不溶性纤维在细胞外组织沉积。受AL淀粉样变性影响最常见的器官是肾脏,表现为肾病综合征和/或进行性肾功能不全,以及心脏,表现为限制性心肌病。半数病例会出现肝脏纤维沉积,但肝脏很少是主要受累器官。肝淀粉样变性最常见的表现是肝肿大伴碱性磷酸酶升高。急性肝衰竭伴胆汁淤积和黄疸是一种罕见的并发症,患病率约为5%,通常与预后较差有关。我们报告了一例39岁男性患者,因原发性淀粉样变性伴肾病综合征和急性肝衰竭的不寻常表现入住我们的肾病科,并发梗阻性胆汁淤积,诊断后2个月死亡。