甘氨脱氧胆酸作为3β-羟基-Δ5-C-甾体氧化还原酶缺乏症的替代治疗：一例报告
Glycodeoxycholic acid as alternative treatment in 3β-hydroxy-Δ5-C-steroid-oxidoreductase: a case report.
作者信息
Majait S, Vaz F M, Kemper E Marleen, Bootsma A H, Groen A K, Nieuwdorp M, Soeters Maarten R
机构信息
Department of Pharmacy and Clinical Pharmacology, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands.
Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Amsterdam UMC Location University of Amsterdam, Amsterdam, Netherlands.
出版信息
Front Pediatr. 2024 Jun 28;12:1418963. doi: 10.3389/fped.2024.1418963. eCollection 2024.
BACKGROUND
3β-hydroxy-Δ5-C27-steroid-oxidoreductase (3β-HSD) deficiency is a bile acid synthesis disorder that leads to the absence of normal primary bile acids and the accumulation of abnormal bile acids. This results in cholestatic jaundice, fat-soluble vitamin deficiency, acholic or fatty stools and failure to thrive. Bile acid supplementation is used to treat 3β-HSD-deficiency and its symptoms.
METHODS
This report details the case of a 28-year-old woman diagnosed with 3β-HSD-deficiency, who was treated with glycine-conjugated deoxycholic acid (gDCA).
RESULTS
gDCA treatment successfully restored normal bile acid levels, improved body weight by reducing fat malabsorption, and was well-tolerated with no observed liver problems or side effects.
CONCLUSIONS
As a potent FXR ligand, gDCA might exert its action through FXR activation leading to bile acid synthesis regulation.
背景
3β-羟基-Δ5-C27-类固醇氧化还原酶（3β-HSD）缺乏症是一种胆汁酸合成障碍，会导致正常初级胆汁酸缺失以及异常胆汁酸蓄积。这会引发胆汁淤积性黄疸、脂溶性维生素缺乏、无胆汁或脂肪性粪便以及生长发育迟缓。补充胆汁酸用于治疗3β-HSD缺乏症及其症状。
方法
本报告详细介绍了一名被诊断为3β-HSD缺乏症的28岁女性的病例，该患者接受了甘氨酸结合型脱氧胆酸（gDCA）治疗。
结果
gDCA治疗成功恢复了正常胆汁酸水平，通过减少脂肪吸收不良改善了体重，且耐受性良好，未观察到肝脏问题或副作用。
结论
作为一种强效的法尼醇X受体（FXR）配体，gDCA可能通过激活FXR发挥作用，从而调节胆汁酸合成。
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