Journal of Clinical Pediatrics >
Analysis of SLC5A2 gene variation in 11 children with primary renal glucosuria
Received date: 2022-07-25
Online published: 2022-12-06
Objective To summarize the clinical characteristics of children with primary renal glucosuria (PRG), and analyze the variation of SLC5A2 gene. Methods The clinical data and genetic test results of children diagnosed with PRG from 2013 to 2021 were retrospectively analyzed. Results There were 11 children (5 boys and 6 girls) with PRG, with a male/female ratio of 1:1.2. The median age at diagnosis was 29 months (1 day to 13 years). Five patients had a family history of glucosuria and none had a family history of diabetes. Two patients had mild and 9 patients had severe glucosuria. The blood glucose, glycated hemoglobin, insulin, C-peptide, renal function and renal ultrasound results were normal in all children. During the follow-up period, there were no symptoms of diabetes or systemic fatigue, and the children had normal growth and development without serious complications. No homozygous variation was found in SLC5A2 gene, the proportion of heterozygous variation was 36% (4/11), and the proportion of compound heterozygous variation was 64% (7/11). A total of 14 variants were found, including 10 missense variants, 1 deletion variant and 3 splicing variants. Among them, 5 variants have been reported in the literature, and 9 variants, p.S161F, p.A169T, p.P275L, p.A312P, p.A365T, p.Y410C, p.F471L, c. 1889_1891del, and c. 1665+5G> C, are new variants, which are predicted to be pathogenic by software and function. Among the 4 children with heterozygous variation, 2 had mild and 2 had severe glucosuria. Seven children with compound heterozygous variation showed severe diabetes. Conclusions SLC5A2 gene detection is helpful for the diagnosis of PRG. The clinical phenotype of PRG is correlated with its genotype. Heterozygous variation may show mild or severe glucosuria, while compound heterozygous variation mostly shows severe glucosuria. The clinical manifestation of children with PRG is mostly benign and does not affect the growth and development of children.
Key words： renal glucosuria; variation; genotype; phenotype
Ling WAN , Chaoying CHEN , Juan TU , Huarong LI . Analysis of SLC5A2 gene variation in 11 children with primary renal glucosuria[J]. Journal of Clinical Pediatrics, 2022 , 40(12) : 912 -918 . DOI: 10.12372/jcp.2022.22e0998
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