不需要初始胆汁酸治疗的健康AKR1D1突变患者:一个病例系列

Akihiko Kimura, Jun Mori, Anh-Hoa Nguyen Pham, Kim-Oanh Bui Thi, Hajime Takei, Tsuyoshi Murai, Hisamitsu Hayashi, Hiroshi Nittono
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引用次数: 0

摘要

Δ 4 -3-氧化类固醇5β-还原酶(AKR1D1)缺乏通常会导致新生儿发生严重的胆汁淤积,除非患者接受初级胆汁酸治疗,否则会导致死亡。然而,我们遇到了一个AKR1D1缺乏症患者,他只接受熊去氧胆酸治疗,直到1岁左右才出现胆汁淤积,但后来在没有进一步治疗的情况下健康成长。我们也一直在跟踪其他健康的AKR1D1突变患者,这些患者从未发生过胆汁淤积症,也没有接受过治疗。然而,报告很少,涉及3例患者。为了更好地了解和临床管理不同的AKR1D1突变患者群体,这些患者在新生儿期不会发生潜在的致命性胆汁淤积症,需要持续积累和研究信息丰富的病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Healthy Patients With AKR1D1 Mutation Not Requiring Primary Bile Acid Therapy: A Case Series
Δ 4 -3-Oxosteroid 5β-reductase ( AKR1D1 ) deficiency typically causes severe cholestasis occurs in newborns, leading to death unless patients are treated with primary bile acids. However, we encountered an AKR1D1 deficiency patient treated with only ursodeoxycholic acid who had cholestasis until about 1 year of age but then grew up healthy without further treatment. We also have been following other healthy patients with AKR1D1 mutation who have never developed cholestasis and have not been treated. However, reports are few, involving 3 patients. To better understand and clinically manage a diverse group of patients with AKR1D1 mutation who do not develop potentially fatal cholestasis in the neonatal period, ongoing accumulation and study of informative cases is needed.
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