Efficacy of Ezetimibe tablets in the treatment of sitosterolemia with thrombocytopenia
10.3760/cma.j.cn101070-20200820-01388
- VernacularTitle:依折麦布片治疗以血小板减少起病的谷固醇血症的疗效分析
- Author:
Qianwen ZHANG
1
;
Qun LI
;
Jian WANG
;
Yanliang JIN
;
Hua HUANG
;
Xiumin WANG
Author Information
1. 上海交通大学医学院附属上海儿童医学中心内分泌代谢科、医学遗传科，上海 200127
- Keywords:
Sitosterolemia;
ABCG5 gene;
Ezetimibe tablets
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(1):54-57
- CountryChina
- Language:Chinese
-
Abstract:
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.
