BACKGROUND: Familial renal glucosuria (FRG) is an inherited renal tubular disorder characterized by persistent isolated glucosuria in the absence of hyperglycemia that is caused by mutations in the sodium-glucose cotransporter SGLT2 coding gene, SLC5A2. OBJECTIVE: We conducted molecular and phenotype analyses of a cohort of 23 unrelated Korean children with FRG. METHODS: Mutational analysis of the SLC5A2 gene was conducted in this multicenter study organized by the Korean Society of Pediatric Nephrology. RESULTS: A total of 21 different SLC5A2 mutations were detected, including 19 novel mutations. All patients had at least one mutated allele; ten patients had homozygous or compound heterozygous mutations and 13 patients had a single heterozygous mutation. Most mutations were private. Patients with two mutations were diagnosed earlier with larger amounts of urinary glucose excretion than patients with single mutations. Pedigree analysis data were consistent with the inheritance of a codominant trait with incomplete penetrance. CONCLUSIONS: These findings extend the allelic heterogeneity in FRG and confirm previous observations of inheritance and genotype–phenotype correlation in patients with this disease.
BACKGROUND:Familial renal glucosuria (FRG) is an inherited renal tubular disorder characterized by persistent isolated glucosuria in the absence of hyperglycemia that is caused by mutations in the sodium-glucose cotransporter SGLT2 coding gene, SLC5A2. OBJECTIVE: We conducted molecular and phenotype analyses of a cohort of 23 unrelated Korean children with FRG. METHODS: Mutational analysis of the SLC5A2 gene was conducted in this multicenter study organized by the Korean Society of Pediatric Nephrology. RESULTS: A total of 21 different SLC5A2 mutations were detected, including 19 novel mutations. All patients had at least one mutated allele; ten patients had homozygous or compound heterozygous mutations and 13 patients had a single heterozygous mutation. Most mutations were private. Patients with two mutations were diagnosed earlier with larger amounts of urinary glucose excretion than patients with single mutations. Pedigree analysis data were consistent with the inheritance of a codominant trait with incomplete penetrance. CONCLUSIONS: These findings extend the allelic heterogeneity in FRG and confirm previous observations of inheritance and genotype–phenotype correlation in patients with this disease.
Authors: René Santer; Martina Kinner; Christoph L Lassen; Reinhard Schneppenheim; Paul Eggert; Martin Bald; Johannes Brodehl; Markus Daschner; Jochen H H Ehrich; Markus Kemper; Salvatore Li Volti; Thomas Neuhaus; Flemming Skovby; Peter G F Swift; Jürgen Schaub; Dan Klaerke Journal: J Am Soc Nephrol Date: 2003-11 Impact factor: 10.121
Authors: Niloofar M Tabatabai; Paula E North; Kevin R Regner; Suresh N Kumar; Christine B Duris; Amy B Blodgett Journal: J Membr Biol Date: 2014-06-07 Impact factor: 1.843
Authors: Rajendra K Kothinti; Amy B Blodgett; Paula E North; Richard J Roman; Niloofar M Tabatabai Journal: Eur J Pharmacol Date: 2012-07-03 Impact factor: 4.432