Empagliflozin as treatment in glycogen storage disease type IB patients

IF 1.8 4区医学 Q3 GENETICS & HEREDITY

Molecular Genetics and Metabolism Reports Pub Date : 2025-05-03 DOI:10.1016/j.ymgmr.2025.101226

María Arbelo Rodríguez , Elena Márquez Mesa , Cristina Lorenzo González , Marina Gutiérrez Vilar , Loredana Arhip , Mónica Ruiz Pons , José Pablo Suárez Llanos

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引用次数: 0

Abstract

Background

Glycogen Storage Disease Ib (GSD Ib) is a disease that associates both neutropenia and neutrophil dysfunction, thereby causing recurrent infections and inflammatory bowel disease (IBD). As of now, the standard treatment of these complications has been the administration of granulocyte-stimulating factor (GCSF). However, recent studies have found that the use of empagliflozin, an antidiabetic drug, may have benefits by reducing the levels of 1,5 anhydroglucitol-6-phosphate (1,5-AG6P), a metabolite that accumulates in the cytosol of neutrophils and blocks the use of glucose.

Results

We therefore report our experience with three patients, one of them being a liver and kidney transplant recipient, with promising results. Morbidity has been greatly reduced in all cases consisting in weight gain, better neutrophil count and management of respiratory, osteoarticular and gastrointestinal comorbidities. Overall, an improvement in quality of life has been observed.

Conclusion

SGLT2 inhibitors, and specifically empagliflozin offer promising results in improving morbidity and quality of life in patients with GSD Ib. In the cases presented, including a patient with double liver-kidney transplant, a good profile of tolerance, safety and effectiveness has been observed.

Synopsis

Empagliflozin offers promising results in improving morbidity and quality of life in patients with GSD Ib, including the first double organ transplant patient treated with this drug.

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恩格列净治疗IB型糖原积存症

背景糖原储存病Ib （GSD Ib）是一种与中性粒细胞减少和中性粒细胞功能障碍相关的疾病，从而引起复发性感染和炎症性肠病（IBD）。到目前为止，这些并发症的标准治疗方法是使用粒细胞刺激因子（GCSF）。然而，最近的研究发现，使用恩格列净（一种降糖药物）可能通过降低1,5-无氢葡萄糖醇-6-磷酸（1,5- ag6p）的水平而有益，这种代谢物积聚在中性粒细胞的细胞质中并阻断葡萄糖的使用。因此，我们报告了我们对三位患者的经验，其中一位是肝脏和肾脏移植接受者，结果很有希望。所有病例的发病率都大大降低，包括体重增加，中性粒细胞计数改善以及呼吸，骨关节和胃肠道合并症的管理。总的来说，生活质量得到了改善。结论：sglt2抑制剂，特别是恩格列清，在改善GSD Ib患者的发病率和生活质量方面有希望的结果。在所提出的病例中，包括双肝肾移植患者，已经观察到良好的耐受性，安全性和有效性。empagliflozin在改善GSD Ib患者的发病率和生活质量方面提供了有希望的结果，包括第一个用该药治疗的双器官移植患者。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Genetics and Metabolism Reports Biochemistry, Genetics and Molecular Biology-Endocrinology

CiteScore

4.00

自引率

5.30%

发文量

105

审稿时长

33 days

期刊介绍： Molecular Genetics and Metabolism Reports is an open access journal that publishes molecular and metabolic reports describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, sequence reports, brief communication reports and letters to the editor are considered.