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Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting by J. Calado; J. Loeffler; O. Sakallioglu; F. Gok; K. Lhotta; J. Barata; J. Rueff is a Medicine article available to read on EtoBox.

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Familial renal glucosuria (FRG) is an inherited renal tubular disorder characterized by persistent isolated glucosuria in the absence of hyperglycemia. Mutations in the sodium/glucose co-transporter SGLT2 coding gene, SLC5A2, were recently found to be responsible for the disorder. Here, we report the molecular and phenotype study of five unrelated FRG families. Five patients were identified and their family members screened for glucosuria. SLC5A2 coding region of index cases was polymerase chain reaction amplified and sequenced. Five different mutations are reported, including four novel alleles. The IVS12 þ 1G4A and p.A102V alleles were identified in homozygosity in index patients of two unrelated families. A proband from another family was compound heterozygous for the p.R132H and p.A219T mutations, and the heterozygous p.Q167fsX186 frameshift allele was the only mutation detected in the affected individual from an additional pedigree. For the remaining family no mutations were detected. The patient homozygous for the p.A102V mutation had glucosuria of 65.6 g/1.73 m 2 / 24 h, evidence of renal sodium wasting, mild volume depletion, and raised basal plasma renin and serum aldoster

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Author

J. Calado; J. Loeffler; O. Sakallioglu; F. Gok; K. Lhotta; J. Barata; J. Rueff

Publisher

Elsevier BV

Published

2006

Language

EN

Field

Medicine (Health Sciences)