Journal of Shandong University (Health Sciences) ›› 2025, Vol. 63 ›› Issue (2): 58-66.doi: 10.6040/j.issn.1671-7554.0.2024.0952

• Clinical Medicine • Previous Articles     Next Articles

Empagliflozin treatment and literature review in three cases of glycogen storage disease type Ib caused by SLC37A4 gene variation

HU Jiaqian1, WANG Mengqin1, ZHANG Zixia1, WANG Xi1, HUANG Ai1, YANG Wei1, LI Dongxiao2, WEI Haiyan1, LUO Shuying1, CHEN Yongxing1   

  1. 1. Department of Endocrinology, Genetics and Metabolism, Zhengzhou Childrens Hospital, Henan Childrens Hospital, Chidrens Hospital Affiliated to Zhengzhou University, Zhengzhou 450053, Henan, China;
    2. Henan Key Laboratory of Childrens Genetics and Metabolic Diseases, Henan Childrens Neurodevelopment, Engineering Research Center, Zhengzhou 450053, Henan, China
  • Online:2025-03-10 Published:2025-03-07

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Abstract: Objective To investigate the clinical features and gene variations of 3 children with glycogen storage disease type Ib(GSDIb), and to analyze the clinical effects of empagliflozin in the treatment of these 3 children with GSDIb. Methods The clinical data and genetic test results of 3 children with GSDIb admitted to Childrens Hospital Affiliated to Zhengzhou University from June 2020 to May 2023 were retrospectively analyzed. All 3 patients received empagliflozin treatment and dietary intervention, and were followed up for 1 to 3 years. This study also conducted a related literature review. Results All three patients were male. The age at the time of consultation spanned from 7 months to 1 year. The predominant clinical manifestations encompassed enlarged liver and retarded intellectual and motor development. Metabolic irregularities were manifested as abnormal liver function, fasting hypoglycemia, elevated serum lactic acid and triglycerides. All cases were accompanied by neutropenia. Compound heterozygous variations in the SLC37A4 gene were identified in all three individuals. The ages at the initiation of empagliflozin treatment were 1 year and 2 months, 1 year, and 1 year and 10 months respectively. The follow-up durations were 12 months, 17 months, and 36 months, respectively. No adverse reactions such as hypoglycemia, urinary tract infection, or abnormal liver and kidney function were observed. The clinical symptoms were ameliorated. This study uncovered a new variant site c.1287_1290del in the SLC37A4 gene, thereby expanding the variation spectrum of the SLC37A4 gene. Conclusion Children with GSDIb exhibit diverse clinical manifestations. There is neutropenia and functional deficiency. Diagnosis relies on genetic testing. Empagliflozin can increase the number of neutrophils in children with GSDIb and improve their clinical symptoms. Early application can avoid the occurrence of inflammatory bowel disease.

Key words: Glycogen storage disease type Ib, SLC37A4 gene, Gene variation, Empagliflozin

CLC Number: 

  • R725
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