儿童ABCG5基因突变谷固醇血症诊治并文献复习

Diagnosis and treatment of children sitosterolemia caused by ABCG5 gene mutation:a case report and literatures review

目的:探讨儿童谷固醇血症的临床特征及治疗经过,并进行文献复习。方法:选择2018年11月因皮肤皱褶处黄瘤9个月于成都市妇女儿童中心医院就诊的1例男性患儿为研究对象。采用回顾性分析方法,收集该例患儿的临床病例资料,对其临床特征和诊治经过进行总结。设置检索策略谷固醇血症、黄瘤、植物固醇、高胆固醇血症、ABCG5基因,以及sitosterolemia、xanthoma、phytosterol、hypercholesterolemia、ABCG5 gene为中、英文关键词,在PubMed数据库、知网数据知识服务平台中,对谷固醇血症文献进行复习检索,总结其临床诊治特点。结果:患儿表现为皮肤黄瘤伴异常血脂升高,诊断为ABCG5基因突变谷固醇血症。经过3个月严格限制植物固醇、部分限制动物固醇的饮食方案后复查血总胆固醇、低密度脂蛋白明显降低,几乎降至正常范围。皮肤黄瘤无变化,部分脂瘤有增大倾向。结论:谷固醇血症临床表现多样,黄瘤可为其特征性皮肤表现,儿科医师需提高对本病的认识,避免误诊、漏诊。

Objective:To investigate the clinical characteristics of children sitosterolemia and its treatment,and to conduct the literature review.Methods:In November 2018,a Chinese boy who presented as cutaneous xanthomatos for 9 months was admitted.Retrospective analysis was conducted to collect his clinical case data and the clinical characteristics and treatment were summarized.Key words of"sitosterolemia""xanthoma","phytosterol","hypercholesterolemia"and"ABCG5 gene"both in Chinese and English were retrieved and sitosterolemia literatures reviews were collected from China national knowledge infrastructure database and PubMed literatures database;the clinical characteristics of sitosterolemia from these literatures were summarized.Results:This patient presented with xanthoma and hyperlipidemia and diagnosed with sitosterolemia caused by ABCG5 gene mutation.After a 3-month dietary of strict phytosterol and animal sterol restrictions,the serum level of LC and LDH-C were significantly reduced,almost to the normal range.Skin xanthoma had no changes and some lipomas were going to be enlarged.Conclusion:The clinical features of sitosterolemia are heterogeneous and xanthomas may be one specific feature.Therefore,pediatricians should enhance knowledge of this disease,avoiding missed diagnosis and misdiagnosis.