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  • Title: Two successful pregnancies and first use of empagliflozin during pregnancy in glycogen storage disease type Ib.
    Author: Grünert SC, Rosenbaum-Fabian S, Schumann A, Selbitz AC, Merz W, Gieselmann A, Spiekerkoetter U.
    Journal: JIMD Rep; 2022 Jul; 63(4):303-308. PubMed ID: 35822091.
    Abstract:
    Glycogen storage disease type Ib (GSD Ib) is caused by biallelic variants in SLC37A4. 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.
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