自身免疫性疾病合并系统性轻链淀粉样变性

Autoimmune disease coinciding with systemic light chain amyloidosis

育龄期女性,临床表现多系统损害、自身抗体阳性、补体下降,同时血免疫固定电泳见游离λ轻链单克隆条带;肾脏损害表现尿检异常伴血清肌酐升高,肾活检证实为肾脏淀粉样变性(AL型);皮肤脂肪组织、骨髓活检均示淀粉样变性。最终诊断自身免疫性疾病合并原发性系统性淀粉样变性(累及肾脏、皮肤、心脏、骨髓)。

A 38-year-old woman presented with arthralgia, fever and edema. Laboratory investigations revealed proteinuria, hematuria, elevated serum creatinine and anemia. Serum immunological examination showed positive antinuclear antibodies and low levels of complement 3. Monoelonal k light chain was detected by serum immunofixation electrophoresis. Heart ultrasound examination showed the interventrieular septal thickness 18 mm. Renal biopsy showed AL amyloidosis, the biopsies of skin and bone marrow also exhibited amyloidosis. The final diagnosis was autoimmune disease coinciding with primary systemic amyloidosis with kidney, skin, heart and bone marrow involved.