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- W3031650941 abstract "ObjectiveIn order to improve physician's understanding of the clinical characteristics and molecular pathogenesis of this disease, we reported one case of primary renal glucosuria (PRG) and had literature reviewed.MethodsMolecular genetic analysis of SLC5A2 gene was conducted in 1 patient with isolated glucosuria. Extensive laboratory test, physical and imaging examination were performed. We also analyzed of the clinical data of renal glucosuria reported in China since 1979 and summarized the SLC5A2 mutations in these Chinese patients with PRG.ResultsThe test results of the patient indicated that glucose metabolism was normal. A novel missense mutation (c.917 G>T, p.S306I) in exon 8 was detected. Review of literature reported in China, 85 cases of PRG were reported, involving 17 families and some sporadic cases. There were 52 males and 33 females with onset age from 7 to 73 years old (mean age 34.03 years). Most patients had no symptoms, 11 patients (12.9%) had different degrees of dry mouth, polydipsia, polyuria, weight loss, fatigue, and 3 cases with urinary tract infection. All of these patients met the diagnostic criteria for PRG. Their fasting blood sugar fluctuated at 2.8-6.6 mmol/L, and 61 patients were excluded diabetes by glucose tolerance test. Six patients were followed up for 4 months to 15 years and no obvious complications occurred.ConclusionThe clinical manifestations of PRG patients are mostly benign, and SLC5A2 gene analysis is helpful for the etiological diagnosis of the disease.Key words: Glycosuria, renal; Gene; SLC5A2; Sodium-glucose co-transporter 2" @default.
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- W3031650941 date "2018-02-27" @default.
- W3031650941 modified "2023-09-23" @default.
- W3031650941 title "Sodium-glucose co-transporter 2 gene mutation causes primary renal glucosuria: case report and review of literature" @default.
- W3031650941 doi "https://doi.org/10.3760/cma.j.issn.1674-5809.2018.02.012" @default.
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