糖原贮积病Ib型患者成功妊娠两次并在孕期首次使用恩格列净。
Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib.
作者信息
Grünert Sarah Catharina, Rosenbaum-Fabian Stefanie, Schumann Anke, Selbitz Anne-Christine, Merz Waltraut, Gieselmann Andrea, Spiekerkoetter Ute
机构信息
Department of General Paediatrics, Adolescent Medicine and Neonatology Medical Centre-University of Freiburg, Faculty of Medicine Freiburg Germany.
Institute of Experimental Hematology and Transfusion Medicine University Hospital Bonn Bonn Germany.
出版信息
JIMD Rep. 2022 May 18;63(4):303-308. doi: 10.1002/jmd2.12295. eCollection 2022 Jul.
Abstract
Glycogen storage disease type Ib (GSD Ib) is caused by biallelic variants in . GSD Ib is characterized by hepatomegaly, recurrent hypoglycemia, neutropenia, and neutrophil dysfunction. Only seven pregnancies in four women with GSD Ib have been reported so far. We report on two further successful pregnancies in two patients with GSD Ib. One of these pregnancies was managed with empagliflozin, an SGLT2 inhibitor, repurposed for the treatment of neutropenia in GSD Ib. Both pregnancies were unremarkable and resulted in healthy offspring. Gestational care and pre- and perinatal management in GSD Ib are challenging and require close interdisciplinary metabolic and obstetric monitoring. In our patient, the use of empagliflozin during pregnancy was successful in the prevention of neutropenic symptoms and infections and enabled good wound healing after Cesarean section, while no adverse effects were observed.
摘要
1b型糖原贮积病（GSD Ib）由……中的双等位基因变异引起。GSD Ib的特征为肝肿大、反复低血糖、中性粒细胞减少和中性粒细胞功能障碍。迄今为止，仅报道了4例患有GSD Ib的女性的7次妊娠情况。我们报告了另外2例患有GSD Ib的患者成功妊娠的情况。其中1例妊娠使用了恩格列净（一种SGLT2抑制剂）进行管理，该药物被重新用于治疗GSD Ib中的中性粒细胞减少症。两次妊娠均无异常，并产下了健康的后代。GSD Ib的孕期护理以及产前和围产期管理具有挑战性，需要密切的跨学科代谢和产科监测。在我们的患者中，孕期使用恩格列净成功预防了中性粒细胞减少症状和感染，并使剖宫产术后伤口愈合良好，同时未观察到不良反应。
相似文献
1
Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib.糖原贮积病Ib型患者成功妊娠两次并在孕期首次使用恩格列净。
JIMD Rep. 2022 May 18;63(4):303-308. doi: 10.1002/jmd2.12295. eCollection 2022 Jul.
2
Clinical spectrum, over 12-year follow-up and experience of SGLT2 inhibitors treatment on patients with glycogen storage disease type Ib: a single-center retrospective study.糖原贮积病 Ib 型患者的临床谱、超过 12 年的随访及 SGLT2 抑制剂治疗经验：一项单中心回顾性研究。
Orphanet J Rare Dis. 2024 Apr 11;19(1):155. doi: 10.1186/s13023-024-03137-6.
3
Improved inflammatory bowel disease, wound healing and normal oxidative burst under treatment with empagliflozin in glycogen storage disease type Ib.恩格列净治疗糖原贮积病 Ib 型可改善炎症性肠病、伤口愈合和正常氧化爆发。
Orphanet J Rare Dis. 2020 Aug 24;15(1):218. doi: 10.1186/s13023-020-01503-8.
4
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.依帕列净治疗 1b 型糖原贮积症的疗效和安全性：国际问卷调查数据。
Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3.
5
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.恩格列净治疗1B型糖原贮积病相关中性粒细胞减少症和中性粒细胞功能障碍的建议：国际研讨会共识
Mol Genet Metab. 2024 Mar;141(3):108144. doi: 10.1016/j.ymgme.2024.108144. Epub 2024 Jan 17.
6
Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the experience of one UK centre.了解 SGLT2 抑制剂在 Ib 型糖原贮积症中的作用：英国一个中心的经验。
Orphanet J Rare Dis. 2022 May 12;17(1):195. doi: 10.1186/s13023-022-02345-2.
7
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.用 SGLT2 抑制剂治疗糖原贮积病 Ib 型的中性粒细胞减少症和中性粒细胞功能障碍。
Blood. 2020 Aug 27;136(9):1033-1043. doi: 10.1182/blood.2019004465.
8
Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.在接受恩格列净治疗的糖原贮积病Ib型患者中进行非靶向代谢组学分析。
JIMD Rep. 2022 May 22;63(4):309-315. doi: 10.1002/jmd2.12304. eCollection 2022 Jul.
9
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.恩格列净治疗 21 例 1b 型糖原贮积病婴儿中性粒细胞减少和功能障碍。
Mol Genet Metab. 2024 Jun;142(2):108486. doi: 10.1016/j.ymgme.2024.108486. Epub 2024 Apr 27.
10
Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using C-glucose breath test.造血干细胞移植对Ⅰb型糖原贮积病的影响：一项采用¹³C-葡萄糖呼气试验的单病例研究设计
Mol Genet Metab Rep. 2023 Jan 3;34:100955. doi: 10.1016/j.ymgmr.2023.100955. eCollection 2023 Mar.
引用本文的文献
1
Safety of Drugs in Breastfeeding Women With CKD.慢性肾脏病哺乳期女性用药的安全性
Kidney Int Rep. 2025 Apr 27;10(7):2189-2201. doi: 10.1016/j.ekir.2025.04.038. eCollection 2025 Jul.
2
Spontaneous restoration of premature ovarian insufficiency and conception in a patient with glycogen storage disease type 1b managed with empagliflozin.恩格列净治疗的1b型糖原贮积病患者出现卵巢早衰自发恢复并受孕
Hormones (Athens). 2025 May 22. doi: 10.1007/s42000-025-00672-0.
3
Case report: The success of empagliflozin therapy for glycogen storage disease type 1b.病例报告：恩格列净治疗 1b 型糖原贮积症的成功。
Front Endocrinol (Lausanne). 2024 Jun 11;15:1365700. doi: 10.3389/fendo.2024.1365700. eCollection 2024.
4
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care.内分泌系统在肝糖原贮积病中的作用：病理生理学及对治疗的意义
Rev Endocr Metab Disord. 2024 Aug;25(4):707-725. doi: 10.1007/s11154-024-09880-2. Epub 2024 Apr 1.
5
Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies.I型糖原贮积病：遗传病因、临床表现以及传统治疗和基因治疗
Pediatr Discov. 2023;1(2). doi: 10.1002/pdi3.3. Epub 2023 Jul 24.
6
Glycogen storage diseases: An update.糖原贮积病：更新。
World J Gastroenterol. 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932.
7
Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors.用钠-葡萄糖协同转运蛋白2（SGLT2）抑制剂治疗与糖原贮积病1b型（GSD1b）和葡萄糖-6-磷酸酶催化亚基3（G6PC3）缺乏相关的中性粒细胞减少症。
Diagnostics (Basel). 2023 May 19;13(10):1803. doi: 10.3390/diagnostics13101803.
8
The Potential of SGLT-2 Inhibitors in the Treatment of Polycystic Ovary Syndrome: The Current Status and Future Perspectives.SGLT-2抑制剂在多囊卵巢综合征治疗中的潜力：现状与未来展望
Biomedicines. 2023 Mar 23;11(4):998. doi: 10.3390/biomedicines11040998.
9
Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders.目前对依帕列净治疗 1b 型糖原贮积病发病机制和疗效的认识：糖尿病领域的新见解可能对其他代谢性疾病有潜在影响。
Front Endocrinol (Lausanne). 2023 Apr 21;14:1145111. doi: 10.3389/fendo.2023.1145111. eCollection 2023.
10
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study.恩格列净治疗1b型糖原贮积病的患者报告结局：一项国际问卷调查研究。
JIMD Rep. 2023 Apr 19;64(3):252-258. doi: 10.1002/jmd2.12364. eCollection 2023 May.
本文引用的文献
1
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.依帕列净治疗 1b 型糖原贮积症的疗效和安全性：国际问卷调查数据。
Genet Med. 2022 Aug;24(8):1781-1788. doi: 10.1016/j.gim.2022.04.001. Epub 2022 May 3.
2
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.用 SGLT2 抑制剂治疗糖原贮积病 Ib 型的中性粒细胞减少症和中性粒细胞功能障碍。
Blood. 2020 Aug 27;136(9):1033-1043. doi: 10.1182/blood.2019004465.
3
2018 ESC Guidelines for the management of cardiovascular diseases during pregnancy.2018年欧洲心脏病学会妊娠期心血管疾病管理指南。
Eur Heart J. 2018 Sep 7;39(34):3165-3241. doi: 10.1093/eurheartj/ehy340.
4
Empagliflozin, metformin and insulin degludec, during pregnancy: a case report.恩格列净、二甲双胍和德谷胰岛素在孕期的应用：一例病例报告
Acta Diabetol. 2018 Jul;55(7):759-761. doi: 10.1007/s00592-018-1134-y. Epub 2018 Mar 29.
5
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.I型糖原贮积病的诊断与管理：美国医学遗传学与基因组学学会实践指南
Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128.
6
Pregnancy in women with glycogen storage disease Ia and Ib.患有糖原贮积病Ia型和Ib型女性的妊娠情况。
J Perinat Neonatal Nurs. 2014 Jan-Mar;28(1):26-31. doi: 10.1097/JPN.0000000000000017.
7
Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study.糖原贮积病Ⅰ型对女性生育力和妊娠的影响：一项多中心意大利研究结果。
J Inherit Metab Dis. 2013 Jan;36(1):83-9. doi: 10.1007/s10545-012-9490-1. Epub 2012 May 5.
8
Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveries.糖原贮积病 Ib 型患者的妊娠：妊娠护理及首次成功分娩报告。
J Inherit Metab Dis. 2010 Dec;33 Suppl 3(0 3):S151-7. doi: 10.1007/s10545-010-9054-1. Epub 2010 Apr 13.
9
Managing passively acquired autoimmune neonatal neutropenia: a case study.被动获得性自身免疫性新生儿中性粒细胞减少症的管理：一项病例研究。
Transfus Med. 2005 Apr;15(2):151-5. doi: 10.1111/j.0958-7578.2005.00565.x.
10
Glycogen storage diseases.糖原贮积病
Rev Endocr Metab Disord. 2003 Mar;4(1):95-102. doi: 10.1023/a:1021831621210.
Zotero 插件