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.
ABSTRACT
Objective: To prepare ezetimibe tablets by direct compression technology. Methods: By comparison with the reference standard, the formulation of self-made ezetimibe tablets was optimized using the disintegration time and the release profile similarity factor f2 as the main indexes by the single factor experiments. The pharmacokinetic parameters of ezetimibe tablets in Beagle dog were determined by LC-MS/MS. The pharmacodynamic effects of ezetimibe tablets were evaluated by measuring serum total cholesterol (TC), triglycerides(TG), high-density lipoprotein cholesterol(HDL-C)and low-density lipoprotein cholesterol(LDL-C)levels. Results: Three batches of self-made ezetimibe tablets with the optimal formulation had similar in vitro dissolution behaviors as the reference preparations(f2>70). There was no significant difference in pharmacokinetic parameters in Beagle between the self-made ezetimibe tablets and the reference standard tablets, and the effect on the high serum cholesterol level was similar. Conclusion: The preparation process of the ezetimibe tablet developed in this study is simple, and the self-made tablet has bioequivalence with the reference standard, which provides a reference for the development of the ezetimibe generic drug.