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

摘要:

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。

Abstract:

Objective：To investigate the clinical characteristics of children sitosterolemia and its treatment，and to conduct the litera－ture review. Methods：In November 2018， a Chinese boy who presented as cutaneous xanthomatos for 9 months was admitted. Retro－spective 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 sitos－terolemia are heterogeneous and xanthomas may be one specific feature. Therefore，pediatricians should enhance knowledge of this disease，avoiding missed diagnosis and misdiagnosis.