Efficacy of Ezetimibe tablets in the treatment of sitosterolemia with thrombocytopenia / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics
; (24): 54-57, 2022.
Article
en Zh
| WPRIM
| ID: wpr-930369
Biblioteca responsable:
WPRO
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.
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Base de datos:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of Applied Clinical Pediatrics
Año:
2022
Tipo del documento:
Article