2019
DOI: 10.3892/mmr.2019.10110
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A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature

Abstract: Familial renal glucosuria (FRG) is a rare condition that involves isolated glucosuria despite normal blood glucose levels. Mutations in the solute carrier family 5 member 2 ( SLC5A2 ) gene, which encodes sodium-glucose cotransporter 2 (SGLT2), have been reported to be responsible for the disease. Genetic testing of the SLC5A2 gene was conducted in a Chinese family with FRG. A number of online tools were used to predict the potential effect of the identified mutatio… Show more

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Cited by 15 publications
(22 citation statements)
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“…Second, details of clinical phenotypes were studied only in a proband in the present study. Urinary glucose excretion in FRG varies widely among patients, ranging from 0.6 to 202 g/1.73 m 2 /24 h. The present patient excreted large amounts of urinary glucose, despite being heterozygous for the mutation.…”
Section: Discussionmentioning
confidence: 56%
“…Second, details of clinical phenotypes were studied only in a proband in the present study. Urinary glucose excretion in FRG varies widely among patients, ranging from 0.6 to 202 g/1.73 m 2 /24 h. The present patient excreted large amounts of urinary glucose, despite being heterozygous for the mutation.…”
Section: Discussionmentioning
confidence: 56%
“…The renal threshold for glucose is decreased in individuals with renal glycosuria due to a defect in SLGT2 transporter [10]. The main cause of this defect is a mutation in the SLC5A2 gene, and to date, around 86 mutations in this gene have been found to be linked with renal glycosuria [11]. Because of the resource constraint, we could not identify the mutation in the current case.…”
Section: Discussionmentioning
confidence: 85%
“…This rare hereditary kidney disease is typically characterized by reduced urinary glucose reabsorption which leads to chronic glycosuria [ 22 ]. To date, more than 70 SLC5A2 gene mutations have been identified and correlated with FRG [ 23 , 24 ].…”
Section: Sglt2 Inhibitors (Gliflozins)mentioning
confidence: 99%