ABCG5基因c.1336C>T和c.496delC位点复合杂合突变所致儿童谷固醇血症，临床表现为黄色瘤、反复关节肿痛、反复发热、高胆固醇血症、贫血、血小板减少伴血炎症指标升高，经非甾体类抗炎药解热镇痛、饮食控制及胆汁螯合剂口服治疗后疾病可得到控制。作者对以反复发热和关节痛为主要表现的谷固醇血症患儿的资料进行分析总结，以期提高临床医生对该病的认识。

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