恩格列净治疗21例糖原贮积病1b婴儿的中性粒细胞减少症和中性粒细胞功能障碍

IF 3.7 2区 生物学 Q2 ENDOCRINOLOGY & METABOLISM Molecular genetics and metabolism Pub Date : 2024-04-27 DOI:10.1016/j.ymgme.2024.108486
Sarah C. Grünert , Matthias Gautschi , Joshua Baker , Monica Boyer , Alberto Burlina , Thomas Casswall , Willemijn Corpeleijn , Kismet Çıki , Melanie Cotter , Ellen Crushell , Terry G.J. Derks , Dorothea Haas , Sebile Kilavuz , Sandra D.K. Kingma , Stanley H. Korman , Anne Kozek , Corinne de Laet , Helen Mundy , Marie Cecile Nassogne , Victor Quintero , Saskia B. Wortmann
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引用次数: 0

摘要

Empagliflozin 已被成功地重新用于治疗糖原贮积病 1b 型(GSD 1b)患者的中性粒细胞减少症和中性粒细胞功能障碍,但尚无婴儿的相关数据。我们报告了empagliflozin在GSD 1b婴儿中的疗效和安全性。这是一个国际回顾性病例系列,21名GSD 1b婴儿接受了empagliflozin治疗(总治疗时间为20.6年)。在开始服用empagliflozin前(中位年龄为8.1个月,中位剂量为0.3毫克/千克/天),12名患者有中性粒细胞功能障碍的临床症状和体征。其中6名曾出现症状的患者在服用empagliflozin后没有再出现中性粒细胞减少/中性粒细胞功能障碍相关症状。8名患者在开始服用前和服用期间没有出现中性粒细胞减少症/中性粒细胞功能障碍的症状和体征。一名先前无症状的马蹄肾患者在接受恩格列净治疗期间发生了肾盂肾炎和尿毒症的中心管感染。10名患者在开始服用empagliflozin前接受了G-CSF治疗,其中4人停止了G-CSF治疗,另外4人减少了G-CSF治疗。有17名患者在服用empagliflozin后血糖稳态保持稳定,但有4名患者在导入期出现血糖稳态不稳定。17名患者未报告其他副作用,其余4名患者报告了生殖器(2例)或口腔(1例)念珠菌病和皮肤感染(1例)。Empagliflozin对中性粒细胞减少/中性粒细胞功能障碍相关体征和症状有良好效果,对GSD 1b婴儿的安全性也很好,因此有资格作为一线治疗进行进一步探索。
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Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b

Empagliflozin has been successfully repurposed for treating neutropenia and neutrophil dysfunction in patients with glycogen storage disease type 1b (GSD 1b), however, data in infants are missing. We report on efficacy and safety of empagliflozin in infants with GSD 1b.

This is an international retrospective case series on 21 GSD 1b infants treated with empagliflozin (total treatment time 20.6 years). Before starting empagliflozin (at a median age of 8.1 months with a median dose of 0.3 mg/kg/day) 12 patients had clinical signs and symptoms of neutrophil dysfunction. Six of these previously symptomatic patients had no further neutropenia/neutrophil dysfunction-associated findings on empagliflozin. Eight patients had no signs and symptoms of neutropenia/neutrophil dysfunction before start and during empagliflozin treatment. One previously asymptomatic individual with a horseshoe kidney developed a central line infection with pyelonephritis and urosepsis during empagliflozin treatment. Of the 10 patients who were treated with G-CSF before starting empagliflozin, this was stopped in four and decreased in another four. Eleven individuals were never treated with G-CSF.

While in 17 patients glucose homeostasis remained stable on empagliflozin, four showed glucose homeostasis instability in the introductory phase. In 17 patients, no other side effects were reported, while genital (n = 2) or oral (n = 1) candidiasis and skin infection (n = 1) were reported in the remaining four.

Empagliflozin had a good effect on neutropenia/neutrophil dysfunction–related signs and symptoms and a favourable safety profile in infants with GSD 1b and therefore qualifies for further exploration as first line treatment.

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来源期刊
Molecular genetics and metabolism
Molecular genetics and metabolism 生物-生化与分子生物学
CiteScore
5.90
自引率
7.90%
发文量
621
审稿时长
34 days
期刊介绍: Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.
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