依帕列净治疗1b型糖原蓄积性疾病患者卵巢功能不全和受孕的自然恢复

IF 2.5
Maria Evangelia Koloutsou, Maria P Yavropoulou, Konstantinos Makrilakis
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引用次数: 0

摘要

糖原储存病1b型(GSD-1b)是一种罕见的遗传性疾病,以糖代谢缺陷为特征,可导致严重的低血糖、中性粒细胞减少症、炎症性肠病和其他代谢异常。我们报告了一例32岁的遗传确诊的GSD-1b女性,在接受钠-葡萄糖-共转运蛋白-2抑制剂(SGLT2i)恩格列清治疗3年后,出现卵巢早衰和月经周期自然恢复,随后受孕和怀孕。最近的研究强调了恩格列净在治疗中性粒细胞减少症和减少GSD-1b感染方面的功效,但它也与卵巢的多效性作用有关。虽然我们的病例不能建立因果关系,但恩格列净除了治疗中性粒细胞减少症外,可能对GSD-1b女性的卵巢功能和生育能力有积极作用。恩格列净影响性腺功能的分子机制和妊娠期安全性有待进一步研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Spontaneous restoration of premature ovarian insufficiency and conception in a patient with glycogen storage disease type 1b managed with empagliflozin.

Glycogen storage disease type 1b (GSD-1b) is a rare genetic disorder characterized by deficiencies in glucose metabolism, leading to severe hypoglycemia, neutropenia, inflammatory bowel disease, and other metabolic abnormalities. We report the case of a 32-year-old woman with genetically confirmed GSD-1b who experienced premature ovarian failure and spontaneous restoration of menstrual cycle with subsequent conception and pregnancy after 3 years of treatment with the sodium-glucose-co-transporter-2-inhibitor (SGLT2i) empagliflozin. Recent studies have highlighted the efficacy of empagliflozin in managing neutropenia and reducing infections in GSD-1b, but it has also been linked to pleiotropic effects in the ovaries. Although our case cannot establish causal relationship, empagliflozin, beyond managing neutropenia, may have a positive effect on ovarian function and fertility in women with GSD-1b. Further research is required to investigate the molecular mechanisms by which empagliflozin may affect gonadal function and to evaluate its safety during pregnancy.

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