Abstract: A 2-year-and-8-month-old child with the characteristics of "edema， proteinuria，joint swelling and pain，and limited mobility" was found to have a heterozygous mutation of the MAFB gene c. 209C>T （p.P70L） by gene detection，which was due to the rare pathogenic mutation reported abroad，and the parents of the child had no mutation of the gene. The patient was diagnosed with multiple osteolysis syndrome according to clinical manifestations and gene detection results. At the same time， the literature of this disease was reviewed to provide reference for future diagnosis and treatment of this disease.

Key words: multicentric carpotarsal osteolysis syndrome, nephrotic syndrome, MAFB gene, proteinuria

摘要： 报道以“浮肿、蛋白尿、关节肿痛及活动受限”为特征的2岁8月龄患儿1例，经基因检测结果为MAFB基因c. 209C>T （p.P70L） 杂合变异，该基因为国外已报道的罕见的致病突变，患儿父母无该基因突变。根据患儿临床表现及基因检测结果诊断为多发性骨溶解综合征，同时，对本病进行文献复习，为今后诊断及治疗该类疾病提供借鉴。

关键词: 多发性骨溶解综合征, 肾病综合征, MAFB 基因, 蛋白尿