20.500.12556/RUL-166825 Case report the success of empagliflozin therapy for glycogen storage disease type 1b Introduction: Glycogen storage disease type 1b (GSD-1b) is characterized by neutropenia and neutrophil dysfunction generated by the accumulation of 1,5-anhydroglucitol-6-phosphate in neutrophils. Sodium-glucose co-transporter 2 inhibitors, such as empagliflozin, facilitate the removal of this toxic metabolite and ameliorate neutropenia-related symptoms, including severe infections and inflammatory bowel disease (IBD). Our case series presents the treatment of three pediatric GSD-1b patients with empagliflozin over a follow-up of three years; the most extended reported follow-up period to date. Cases description: A retrospective analysis of empagliflozin treatment of three pediatric GSD-1b patients (two male and one female; ages at treatment initiation: 4.5, 2.5 and 6 years) was performed. Clinical and laboratory data from a symmetrical period of up to three years before and after the therapy introduction was reported. Data on the clinical course of the treatment, IBD activity, the need for antibiotic treatment and hospitalizations, neutrophil count and function, and markers of inflammation were assessed. Prior the introduction of empagliflozin, patients had recurrent oral mucosa lesions and infections, abdominal pain, and anemia. During empagliflozin treatment, the resolution of aphthous stomatitis, termination of abdominal pain, reduced frequency and severity of infections, anemia resolution, increased appetite, and improved wound healing was observed in all patients, as well as an increased body mass index in two of them. In a patient with IBD, long-term deep remission was confirmed. An increased and stabilized neutrophil count and an improved neutrophil function enabled the discontinuation of G-CSF treatment in all patients. A trend of decreasing inflammation markers was detected. Conclusions: During the three-year follow-up period, empagliflozin treatment significantly improved clinical symptoms and increased the neutrophil count and function, suggesting that targeted metabolic treatment could improve the immune function in GSD-1b patients. glycogen storage disease type 1B GSD-1b empagliflozin SGLT2 inhibitor neutropenia inflammatory bowel disease case series true false true Angleški jezik Ni določen Članek v reviji 2025-01-27 10:33:54 2025-01-27 10:34:00 2025-01-28 04:00:19 0000-00-00 00:00:00 2024 0 0 8 str. Vol. 15, art. 1365700 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 61 1664-2392 10.3389/fendo.2024.1365700 203198979 fendo-15-1365700.pdf fendo-15-1365700.pdf 1 F36FC61BC6EB0F831047A13D018C621E 9397a2ca5e42cfab64b6a4c7539ed40f7d38ea9b0feed141bd51d5da251b298d 525c46b9-dc92-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=198748 https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2024.1365700/full 1 08a81334-dc91-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=198746 Medicinska fakulteta 0 0 0