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Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time.

Ottosson Laakso, Emilia LU ; Tuomi, Tiinamaija; Forsén, Björn; Gullström, Monika; Groop, Per-Henrik; Groop, Leif LU and Vikman, Petter LU (2016) In PLoS ONE 11(1).
Abstract
Familial renal glycosuria is an inherited disorder resulting in glucose excretion in the urine despite normal blood glucose concentrations. It is most commonly due to mutations in the SLC5A2 gene coding for the glucose transporter SGLT2 in the proximal tubule. Several drugs have been introduced as means to lower glucose in patients with type 2 diabetes targeting SGLT2 resulting in renal glycosuria, but no studies have addressed the potential effects of decreased renal glucose reabsorption and chronic glycosuria on the prevention of glucose intolerance. Here we present data on a large pedigree with renal glycosuria due to two mutations (c.300-303+2del and p.A343V) in the SLC5A2 gene. The mutations, which in vitro affected glucose transport... (More)
Familial renal glycosuria is an inherited disorder resulting in glucose excretion in the urine despite normal blood glucose concentrations. It is most commonly due to mutations in the SLC5A2 gene coding for the glucose transporter SGLT2 in the proximal tubule. Several drugs have been introduced as means to lower glucose in patients with type 2 diabetes targeting SGLT2 resulting in renal glycosuria, but no studies have addressed the potential effects of decreased renal glucose reabsorption and chronic glycosuria on the prevention of glucose intolerance. Here we present data on a large pedigree with renal glycosuria due to two mutations (c.300-303+2del and p.A343V) in the SLC5A2 gene. The mutations, which in vitro affected glucose transport in a cell line model, and the ensuing glycosuria were not associated with better glycemic control during a follow-up period of more than 10 years. One individual, who was compound heterozygous for mutations in the SLC5A2 gene suffered from severe urogenital candida infections and postprandial hypoglycemia. In conclusion, in this family with familial glycosuria we did not find any evidence that chronic loss of glucose in the urine would protect from deterioration of the glucose tolerance over time. (Less)
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author
organization
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Contribution to journal
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published
subject
in
PLoS ONE
volume
11
issue
1
publisher
Public Library of Science
external identifiers
  • pmid:26735923
  • wos:000367805100035
  • scopus:84954173212
ISSN
1932-6203
DOI
10.1371/journal.pone.0146114
language
English
LU publication?
yes
id
5c557bdc-0ab5-4a09-91cd-a1d911817b39 (old id 8592921)
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http://www.ncbi.nlm.nih.gov/pubmed/26735923?dopt=Abstract
date added to LUP
2016-02-01 21:49:46
date last changed
2017-11-19 03:53:48
@article{5c557bdc-0ab5-4a09-91cd-a1d911817b39,
  abstract     = {Familial renal glycosuria is an inherited disorder resulting in glucose excretion in the urine despite normal blood glucose concentrations. It is most commonly due to mutations in the SLC5A2 gene coding for the glucose transporter SGLT2 in the proximal tubule. Several drugs have been introduced as means to lower glucose in patients with type 2 diabetes targeting SGLT2 resulting in renal glycosuria, but no studies have addressed the potential effects of decreased renal glucose reabsorption and chronic glycosuria on the prevention of glucose intolerance. Here we present data on a large pedigree with renal glycosuria due to two mutations (c.300-303+2del and p.A343V) in the SLC5A2 gene. The mutations, which in vitro affected glucose transport in a cell line model, and the ensuing glycosuria were not associated with better glycemic control during a follow-up period of more than 10 years. One individual, who was compound heterozygous for mutations in the SLC5A2 gene suffered from severe urogenital candida infections and postprandial hypoglycemia. In conclusion, in this family with familial glycosuria we did not find any evidence that chronic loss of glucose in the urine would protect from deterioration of the glucose tolerance over time.},
  articleno    = {e0146114},
  author       = {Ottosson Laakso, Emilia and Tuomi, Tiinamaija and Forsén, Björn and Gullström, Monika and Groop, Per-Henrik and Groop, Leif and Vikman, Petter},
  issn         = {1932-6203},
  language     = {eng},
  number       = {1},
  publisher    = {Public Library of Science},
  series       = {PLoS ONE},
  title        = {Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time.},
  url          = {http://dx.doi.org/10.1371/journal.pone.0146114},
  volume       = {11},
  year         = {2016},
}