Huang Dan, Zhou Qiong, Chao Yun-Qi, Zou Chao-Chun
Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine.
Department of Pediatrics, Hangzhou Children's Hospital, Hangzhou, China.
Medicine (Baltimore). 2019 Apr;98(15):e15013. doi: 10.1097/MD.0000000000015013.
Sitosterolemia is a rare autosomal recessive disorder of dyslipidemia due to mutations of genes ABCG5 and ABCG8, leading to highly elevated plasma levels of plant sterols and expanded body pools of cholesterol.
We present a 9-year-old and a 7-year-old Chinese boy with hypercholesterolemia and xanthomas of sitosterolemia due to ABCG5 gene mutations. We also make a literature review of another 30 sitosterolemic children cases that have been reported with virulence ABCG5 gene mutations.
We took peripheral blood samples from 2 patients and their parents to conduct genetic analysis by next-generation sequencing (NGS) technologies.
The 2 patients received dietary modifications without pharmaceuticals treatment.
A c.1166G>A (Arg389His) homozygosis mutation in exon 9 was observed in case 1, whereas a c.751C>T (Gln251*) homozygosis mutation in exon 6 was found in case 2. Literature review found another 30 pediatric cases with sitosterolemia due to ABCG5 gene mutation. The lipid profile was normalized and xanthomas got smaller with combined therapy of a combined low-cholesterol and low-phytosterols diet.
These suggested that in patients (especially Asian patients) with multiple xanthomas, severe hypercholesterolemia, or elevated low-density lipoprotein-cholesterol, sitosterolemia should be considered in the differential diagnosis. Early diagnosis is important, and restriction of both cholesterol and phytosterols diet should suggested for these patients.
谷甾醇血症是一种罕见的常染色体隐性血脂异常疾病，由ABCG5和ABCG8基因突变引起，导致血浆植物甾醇水平大幅升高以及体内胆固醇池扩大。
我们报告了两名中国男孩，分别为9岁和7岁，因ABCG5基因突变患有谷甾醇血症伴高胆固醇血症和黄色瘤。我们还对另外30例已报道的因ABCG5基因突变导致谷甾醇血症的儿童病例进行了文献综述。
我们采集了2名患者及其父母的外周血样本，采用下一代测序（NGS）技术进行基因分析。
这2名患者接受了饮食调整，未进行药物治疗。
病例1在外显子9中观察到c.1166G>A（Arg389His）纯合突变，而病例2在外显子6中发现c.751C>T（Gln251*）纯合突变。文献综述发现另外30例因ABCG5基因突变导致谷甾醇血症的儿科病例。通过低胆固醇和低植物甾醇饮食的联合治疗，血脂谱恢复正常，黄色瘤变小。
这些结果表明，对于患有多发性黄色瘤、严重高胆固醇血症或低密度脂蛋白胆固醇升高的患者（尤其是亚洲患者），在鉴别诊断中应考虑谷甾醇血症。早期诊断很重要，建议这些患者限制胆固醇和植物甾醇饮食。
