目的:为了加强检测,通过检查儿科患者的身体特征和遗传构成,管理和监测患有谷甾醇血症的中国儿童。
方法:在该组中,26名儿童被诊断为谷甾醇血症,其中24人进行了遗传分析。患者家族病史,身体症状,肝功能测试,脂质水平,标准血液测试,植物甾醇水平,心脏/颈动脉超声,眼底检查,并收集治疗。
结果:26例患者中大多数(19,73.1%)以黄色瘤为最普遍的表现。第二常见的症状是关节痛(7,26.9%)和发育迟缓(4,15.4%)。在24名(92.3%)患者的遗传学分析中,16例(66.7%)携带ABCG5变种(2型谷甾醇血症),近三分之一(8,33.3%)携带ABCG8变体(1型谷甾醇血症)。此外,最常见的致病性ABCG5变异为c.1166G>A(p。Arg389His),在10例患者中发现(66.7%)。进一步分析显示,ABCG5和ABCG8变异者的病理性状无显著差异(P>0.05)。有趣的是,ABCG5比ABCG8有更丰富的无义变化(P=0.09),ABCG8的剪接变化频率高于ABCG5(P=0.01)。在改变饮食或依泽替米贝的组合后,与治疗前报告的水平相比,胆固醇和低密度脂蛋白水平显著下降.
结论:对于出现黄色瘤和胆固醇水平升高的个体,应考虑谷甾醇血症。植物甾醇检测和遗传分析对于早期检测很重要。管理饮食和服用依泽替米贝可以很好地控制血脂。
OBJECTIVE: To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.
METHODS: In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phytosterol levels, cardiac/carotid artery ultrasounds, fundus examinations, and treatment were collected.
RESULTS: The majority (19, 73.1%) of the 26 patients exhibited xanthomas as the most prevalent manifestation. The second most common symptoms were joint pain (7, 26.9%) and stunted growth (4, 15.4%). Among the 24 (92.3%) patients whose genetics were analyzed, 16 (66.7%) harbored ABCG5 variants (type 2 sitosterolemia), and nearly one-third (8, 33.3%) harbored ABCG8 variants (type 1 sitosterolemia). Additionally, the most common pathogenic ABCG5 variant was c.1166G > A (p.Arg389His), which was found in 10 patients (66.7%). Further analysis did not indicate any significant differences in pathological traits among those carrying ABCG5 and ABCG8 variations (P > 0.05). Interestingly, there was a greater abundance of nonsense variations in ABCG5 than in ABCG8 (P = 0.09), and a greater frequency of splicing variations in ABCG8 than ABCG5 (P = 0.01). Following a change in diet or a combination of ezetimibe, the levels of cholesterol and low-density lipoprotein were markedly decreased compared to the levels reported before treatment.
CONCLUSIONS: Sitosterolemia should be considered for individuals presenting with xanthomas and increased cholesterol levels. Phytosterol testing and genetic analysis are important for early detection. Managing one\'s diet and taking ezetimibe can well control blood lipids.