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Determination of the renal threshold for glucose excretion in Familial Renal Glucosuria
- Source :
- Nephron. 129(4)
- Publication Year :
- 2014
-
Abstract
- Background/Aims: Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of hyperglycemia. Mutations in SLC5A2, the gene coding for the sodium-glucose co-transporter 2 (SGLT2), are responsible for FRG. Phenotype/genotype correlations in FRG have mostly relied on the quantification of Urinary Glucose Excretion (UGE), which is dependent on both the filtered glucose load and the renal glucose reabsorptive capacity. In the current work, the renal threshold for glucose excretion (RTG) was determined in an FRG cohort, with the purpose of characterizing the impact of SGLT2 mutations on renal glucose transport. Methods: From January to December of 2013, eight FRG individuals with identified SLC5A2 mutations were enrolled. Patients were given a Mixed-Meal Tolerance Test during which blood glucose and UGE were measured over a 4 h period and the data was used to calculate RTG, according to a recently validated protocol. Results: In patients with homozygous mutations, RTG values were very low, with a mean (SD) of 0.95 (1.17) mmol/l, compared to commonly reported values of approximately 10-11.1 mmol/l in healthy subjects. In subjects with heterozygous mutations, mean (SD) RTG values were 4.91 (1.23) mmol/l, which are approximately one-half of the values in subjects without mutations. Conclusions: In FRG, mutations in SLC5A2 lead to reductions in RTG and increases in UGE. Because determination of RTG is not influenced by the filtered glucose load, the calculated RTG values provide a more refined measure of the impact of mutations on renal glucose transport than can be obtained from UGE alone.
- Subjects :
- Glycosuria
Adult
Blood Glucose
Male
medicine.medical_specialty
Heterozygote
Adolescent
Urinary system
Renal function
Glycosuria, Renal
Excretion
Cohort Studies
Young Adult
Sodium-Glucose Transporter 2
Internal medicine
medicine
Humans
Child
Frameshift Mutation
Glucose tolerance test
medicine.diagnostic_test
business.industry
Glucose transporter
Glucose Tolerance Test
Middle Aged
Renal glucose reabsorption
Endocrinology
Mutation
Renal threshold
Female
medicine.symptom
business
Glomerular Filtration Rate
Subjects
Details
- ISSN :
- 22353186
- Volume :
- 129
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Nephron
- Accession number :
- edsair.doi.dedup.....2eab92dba4a949822866c1a493c587ff