摘要目的:探讨儿童期起病的遗传性高胆固醇血症临床特点。方法:回顾性分析2020年1至12月河南省儿童医院收治的4例遗传性高胆固醇血症患儿的一般情况、临床表现、实验室检查、基因检测结果等临床资料。结果:4例女性患儿就诊年龄分别为5.5、1.5、6.3、3.1岁，均以皮肤黄瘤为主诉就诊。血总胆固醇（11.8~20.9 mmol/L）、低密度脂蛋白胆固醇（8.2~13.7 mmol/L）均显著增高。例1、2血β-谷固醇（241.2、164.2 μmol/L）明显增高。基因检测提示例1、2分为ABCG8和ABCG5基因复合杂合变异，诊断为谷固醇血症；例3、4有高胆固醇血症家族史，基因检测提示均为 LDLR基因复合杂合变异，诊断为家族性高胆固醇血症。饮食治疗后例1、2血脂恢复正常，皮肤黄瘤较前消退。例3、4饮食加用瑞舒伐他汀治疗后血脂逐渐下降。结论:黄瘤病为谷固醇血症和家族性高胆固醇血症的共同临床表现。家族史、血植物固醇谱、基因变异、早期饮食治疗后血脂变化有助于鉴别。

abstractsObjective:To investigate the clinical characteristics of hereditary hypercholesterolemia in childhood.Methods:The clinical data including general conditions, clinical manifestations, laboratory tests, and genetic testing results of 4 children with hereditary hypercholesterolemia who admitted to Henan Children′s Hospital from January 2020 to December 2020 were retrospectively analyzed.Results:There were 4 female children aged 5.5,1.5,6.3,3.1 years, all presented with skin xanthoxoma as the chief complaint. Plasma total cholesterol (range 11.8 to 20.9 mmol/L) and low density lipoprotein-cholesterol (range 8.2 to 13.7 mmol/L) were significantly elevated. The serum β-glutamate levels in case 1 (241.2 μmol/L) and case 2 (164.2 μmol/L) increased significantly. Genetic analysis revealed compound heterozygous variants of ABCG8 gene in case 1 and ABCG5 gene in case 2 who were diagnosed with sitosterolemia. Case 3 and 4 who all had family history of hypercholesterolemia and compound heterozygous variants of LDLR gene were diagnosed with familial hypercholesterolemia. After diet treatment, the blood lipids returned normal and the skin xanoma subsided in case 1 and 2. In case 3 and 4, the blood lipids gradually decreased after diet and rosuvastatin treatment.Conclusions:Xanthomatosis is the common clinical manifestation of sitosterolemia and familial hypercholesterolemia. Family history, blood plant sterol profile, genetic variation, and changes in blood lipids after early dietary treatment are helpful for disease identification.