M蛋白相关范可尼综合征：4例临床分析

Aquired Fanconi syndrome related to monoclonal gammopathy: clinical characteristics of four patients

目的 总结并分析北京协和医院近27年收治的M蛋白相关范可尼综合征患者的临床特征和治疗效果,以期提高临床医师对此类疾病的认识.方法 采用回顾性分析方法,对北京协和医院1986年1月至2013年5月收治的4例M蛋白相关范可尼综合征患者的临床表现、生化特征、骨骼表现以及治疗效果进行总结.结果 4例患者的病程为3个月～3年,均有明显骨痛,无体重下降.实验室检查均符合范可尼综合征诊断,24 h尿轻链KAP和LAM均明显升高,其中3例患者血或尿免疫固定电泳发现M蛋白.4例患者骨髓穿刺和活检病理均提示骨髓浆细胞比例高于正常（2.0%～5.5%）,均未发现淀粉样变证据.3例行肾穿刺活检结果均提示肾间质病变.治疗方法：补钾、纠酸、补磷、维生素D制剂和钙剂治疗,针对浆细胞增多的化疗作用有限.结论 对于成人起病的范可尼综合征、尤其是表现有明显骨痛的患者,应注意筛查M蛋白.对诊断为M蛋白相关范可尼综合征的患者进行长期随诊十分重要.

Objective To summarize the clinical characteristics and treatment of 4 patients with monoclonalgam- mopathy and Fanconi syndorme fi＇om 1986 to 2013 years in PUMCH. Methods Through retrospective analysis, four pa- tients diagnosed as Fanconi syndrome with positive M protein either in blood or urine were recruited fi＇om January 1986 to May 2013. Clinical manifestations, hiochemistry parameters, bone disease, and treatment strategies were analyzed. Results The course of disease from onset to hospitalization was 3 months to 3 years. All patients presented significant bone pain, but without weight loss. The diagnosis of Fanconi syndrome was confirmed by metabolic acidosis, renal glycosuria, aminoaeidur- ia, proteinuria, hypokalemia, hypophosphatemia and hypourieemia. Quantity of 24 hour urine light chain was all significantly increased. M protein was detected by serum or urine immunofixation electrophoresis in three patients. Mildly increased percentage of plasma cells （2% -5.5% ） in bone marrow were fonnd in all four patients without evidence of amyloidosis was ascertained. Three patients received renal biopsy, and the result showed tubulo-interstitial nephritis. Treatment mainly focused on Fanconi syndorme, medication including potassium citrate, sodium bicarbonate, phosphates, vitamin D, and calcium. All four patients were no received chemotherapy for plasma cell dyscrasias. Conclusion Adult patients with ac- quired Fanconi syndrome are combined with monoclonal gammopathy in rare cases, which represents as indolent process. Treatment to Fanconi syndrome contributes to alleviate symptoms while anti-plasma cell agents don＇t work well.