PDF(Pubmed)
Abstract：
BACKGROUND: Glycogen storage disease type Ib (GSD Ib) is a rare disorder characterized by impaired glucose homeostasis caused by mutations in the SLC37A4 gene. It is a severe inherited metabolic disease associated with hypoglycemia, hyperlipidemia, lactic acidosis, hepatomegaly, and neutropenia. Traditional treatment consists of feeding raw cornstarch which can help to adjust energy metabolism but has no positive effect on neutropenia, which is fatal for these patients. Recently, the pathophysiologic mechanism of the neutrophil dysfunction and neutropenia in GSD Ib has been found, and the treatment with the SGLT2 inhibitor empaglifozin is now well established. In 2020, SGLT2 inhibitor empagliflozin started to be used as a promising efficient remover of 1,5AG6P in neutrophil of GSD Ib patients worldwide. However, it is necessary to consider long-term utility and safety of a novel treatment.
RESULTS: In this study, we retrospectively examined the clinical manifestations, biochemical examination results, genotypes, long-term outcomes and follow-up of thirty-five GSD Ib children who visited our department since 2009. Fourteen patients among them underwent empagliflozin treatment since 2020. This study is the largest cohort of pediatric GSD Ib patients in China as well as the largest cohort of pediatric GSD Ib patients treated with empagliflozin in a single center to date. The study also discussed the experience of long-term management on pediatric GSD Ib patients.
CONCLUSIONS: Empagliflozin treatment for pediatric GSD Ib patients is efficient and safe. Increase of urine glucose is a signal for pharmaceutical effect, however attention to urinary infection and hypoglycemia is suggested.
RESULTS: In this study, we retrospectively examined the clinical manifestations, biochemical examination results, genotypes, long-term outcomes and follow-up of thirty-five GSD Ib children who visited our department since 2009. Fourteen patients among them underwent empagliflozin treatment since 2020. This study is the largest cohort of pediatric GSD Ib patients in China as well as the largest cohort of pediatric GSD Ib patients treated with empagliflozin in a single center to date. The study also discussed the experience of long-term management on pediatric GSD Ib patients.
CONCLUSIONS: Empagliflozin treatment for pediatric GSD Ib patients is efficient and safe. Increase of urine glucose is a signal for pharmaceutical effect, however attention to urinary infection and hypoglycemia is suggested.
摘要：
背景：糖原贮积病Ib型（GSDIb）是一种罕见的疾病，其特征是由SLC37A4基因突变引起的葡萄糖稳态受损。它是一种与低血糖相关的严重遗传性代谢疾病，高脂血症,乳酸性酸中毒,肝肿大,和中性粒细胞减少症.传统治疗包括饲喂生玉米淀粉，这可以帮助调节能量代谢，但对中性粒细胞减少症没有积极作用，这对这些患者来说是致命的。最近,已经发现GSDIb中性粒细胞功能障碍和中性粒细胞减少的病理生理机制，SGLT2抑制剂empaglifozin的治疗现在已经确立。2020年，SGLT2抑制剂empagliflozin开始在全球GSDIb患者的中性粒细胞中用作有前途的1,5AG6P的有效去除剂。然而,有必要考虑一种新型治疗方法的长期效用和安全性。
结果：在这项研究中，我们回顾性地检查了临床表现，生化检查结果,基因型，自2009年以来在我们部门就诊的35名GSDIb儿童的长期结局和随访。自2020年以来，其中14名患者接受了empagliflozin治疗。这项研究是中国最大的儿童GSDIb患者队列，也是迄今为止在单个中心接受依帕列净治疗的最大的儿童GSDIb患者队列。该研究还讨论了小儿GSDIb患者的长期管理经验。
结论：Empagliflozin治疗小儿GSDIb患者是有效和安全的。尿糖的增加是药效的信号，然而，建议注意尿路感染和低血糖。
结果：在这项研究中，我们回顾性地检查了临床表现，生化检查结果,基因型，自2009年以来在我们部门就诊的35名GSDIb儿童的长期结局和随访。自2020年以来，其中14名患者接受了empagliflozin治疗。这项研究是中国最大的儿童GSDIb患者队列，也是迄今为止在单个中心接受依帕列净治疗的最大的儿童GSDIb患者队列。该研究还讨论了小儿GSDIb患者的长期管理经验。
结论：Empagliflozin治疗小儿GSDIb患者是有效和安全的。尿糖的增加是药效的信号，然而，建议注意尿路感染和低血糖。
