摘要
回顾性分析2019年6月至2020年1月在上海交通大学医学院附属上海儿童医学中心就诊的1例谷固醇血症患儿的临床特征及基因变异特点,使用依折麦布片结合低植物固醇饮食进行治疗,随访监测,并进行文献复习。患儿,男,7岁5个月,因"反复血小板减少7个月"就诊,总胆固醇正常。全外显子测序示患儿ABCG5基因发生复合杂合变异(p.Arg446*,p.Gln251*),分别遗传自父母,诊断为谷固醇血症。采用依折麦布片结合饮食控制治疗29 d后,患儿血小板值恢复正常,无明显不良反应。谷固醇血症患儿可表现为罕见的血小板减少,依折麦布片结合饮食控制治疗反应良好。
The clinical features and genetic variants of the patient with sitosterolemia who was referred to Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine from June 2019 to January 2020 were retrospectively analyzed.The patient was treated with Ezetimibe tablets combined with diet control,and the follow-up was performed regularly.Besides,a relevant literature review was conducted.A 7-year and 5-month-old boy was referred to the hospital for"repeated thrombocytopenia for 7 months"with normal serum cholesterol.The whole exome sequencing showed that compound heterozygous mutations(p.Arg446*,p.Gln251*)in ABCG5 gene were inherited from their parents respectively.Hence,he was diagnosed with sitosterolemia.After 29 days of treatment with Ezetimibe tablets combined with diet control,the patient′s platelets returned to normal values without obvious adverse reactions related to drugs.Children with sitosterolemia may present with rare thrombocytopenia,and the therapeutic effects of Ezetimibe tablets combined with diet control are favorable.
作者
张倩文
李群
王剑
金燕樑
黄华
王秀敏
Zhang Qianwen;Li Qun;Wang Jian;Jin Yanliang;Huang Hua;Wang Xiumin(Department of Endocrinology and Metabolism,Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;Department of Medical Genetics and Molecular Diagnostic Laboratory,Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China;Department of Nephrology and Rheumatology,Shanghai Children′s Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai 200127,China)
出处
《中华实用儿科临床杂志》
CAS
CSCD
北大核心
2022年第1期54-57,共4页
Chinese Journal of Applied Clinical Pediatrics
基金
浦东新区科技发展基金(PKJ2018-Y46)。
