REPURPOSING EMPAGLIFLOZIN TO TREAT NEUTROPENIA IN A TURKISH GIRL WITH GLYCOGEN STORAGE DISEASE TYPE 1B
Makaleler > Tam Makale · 2024
Yazarlar: Hasan Selçuk Özkan, Ece Derin Aydın, Sakina Mammadova, Mahmut ÇOKER
TURKISH MEDICAL STUDENT JOURNAL, Uluslararası, 2024, ss 50-54
DOI: 10.4274/tmsj.galenos.2024.2024-2-1
Özet
Recurrent infections in children are alarming symptoms that require further investigation, particularly for various immunodeficiency syndromes.However, concomitant physical examination and laboratory findings, along with detailed investigations on the nature of these infections, might be useful to identify further pathologies, such as neutropenia, which might be the underlying reason behind recurrent infections.In this case report, we aimed to provide a different perspective on recurrent infections in childhood and to highlight the importance of accompanying physical examination findings and careful history-taking.In addition, by using glycogen storage disease type 1b as a model disease, we aim to raise awareness of inborn errors of metabolism as possible differential diagnoses and to prove that through certain therapeutic measures such as drug repurposing, these diseases can be controlled, possibly leading to decreased morbidity and mortality in this patient group, which was once thought to have a devastating prognosis.