Journal of Clinical Pediatrics >
Therapeutic efficacy of an SGLT2 inhibitor in five pediatric patients with glycogen storage disease type Ⅰb and inflammatory bowel disease
Received date: 2022-12-17
Online published: 2023-04-07
Objective To analyze the therapeutic effect of a sodium-glucose co-transporter 2 (SGLT2) inhibitor in five pediatric patients with glycogen storage disease type Ⅰb (GSD-Ⅰb) and inflammatory bowel disease (IBD). Methods Changes in clinical manifestations and laboratory tests of five pediatric GSD-Ⅰb patients with IBD before and after the administration of a SGLT2 inhibitor from 2021 to 2022 were analyzed retrospectively. Results The median age of IBD onset was 5.0 years old. All five patients presented with oral ulcers, abdominal pain, diarrhea and perianal abscess. Before the administration of the SGLT2 inhibitor, the median pediatric Crohn’s disease activity index (PCDAI) was 55.0. After the treatment [median length of treatment: 12.0 months, median dose at the last follow-up: 0.31 mg/(kg·d)], the median PCDAI (10.0) was significantly decreased (P=0.043), and all the patients achieved clinical response. During the treatment, 2 patients developed hypoglycemia and 4 patients developed pruritus in perineum or urethral orifice. Two novel SLC37A4 variants were identified (c.2delT, c.1065delG) and c.446G>A (p.G149E) was a hotspot variant (70%). Conclusions The SGLT2 inhibitor can significantly and safely reduce the disease activity of IBD in pediatric GSD-Ⅰb patients.
Yu XIA , Wensong GE , Taozi DU , Zizhen GONG , Bing XIAO , Lili LIANG , Ruifang WANG , Yi YANG , Wenjuan QIU . Therapeutic efficacy of an SGLT2 inhibitor in five pediatric patients with glycogen storage disease type Ⅰb and inflammatory bowel disease[J]. Journal of Clinical Pediatrics, 2023 , 41(4) : 294 -299 . DOI: 10.12372/jcp.2023.22e0095
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