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Pediatric Nephrology

, Volume 27, Issue 7, pp 1091–1095 | Cite as

Familial renal glucosuria: a clinicogenetic study of 23 additional cases

  • HyunKyung Lee
  • Kyoung Hee Han
  • Hye Won Park
  • Jae Il Shin
  • Chan Jong Kim
  • Mee Kyung Namgung
  • Kee Hyuck Kim
  • Ja Wook Koo
  • Woo Young Chung
  • Dae-Yeol Lee
  • Su-Yung Kim
  • Hae Il Cheong
Original Article

Abstract

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.

Keywords

Familial renal glucosuria Sodium-glucose cotransporter SGLT2 SLC5A2 gene Mutation 

Notes

Acknowledgements

This study was supported by a grant (A080588) from the Korea Healthcare Technology R&D Project, Ministry for Health, Welfare and Family Affairs, Republic of Korea.

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Copyright information

© IPNA 2012

Authors and Affiliations

  • HyunKyung Lee
    • 1
  • Kyoung Hee Han
    • 1
  • Hye Won Park
    • 2
  • Jae Il Shin
    • 3
  • Chan Jong Kim
    • 4
  • Mee Kyung Namgung
    • 5
  • Kee Hyuck Kim
    • 6
  • Ja Wook Koo
    • 7
  • Woo Young Chung
    • 8
  • Dae-Yeol Lee
    • 9
  • Su-Yung Kim
    • 10
  • Hae Il Cheong
    • 1
    • 11
    • 12
  1. 1.Department of PediatricsSeoul National University Children’s HospitalSeoulKorea
  2. 2.Department of PediatricsSeoul National University Bundang HospitalSungnamKorea
  3. 3.Department of PediatricsYonsei University College of Medicine, Severance Children’s HospitalSeoulKorea
  4. 4.Department of PediatricsChonnam National University HospitalGwangjuKorea
  5. 5.Department of Pediatrics, Wonju College of MedicineYonsei UniversityWonjuKorea
  6. 6.Department of PediatricsNHIC Ilsan HospitalGoyangKorea
  7. 7.Department of PediatricsInje University Sanggye Paik HospitalSeoulKorea
  8. 8.Department of PediatricsInje University Busan Paik HospitalBusanKorea
  9. 9.Department of PediatricsChonbuk National University Medical SchoolJeonjuKorea
  10. 10.Department of Pediatrics, Yangsan Children’s HospitalPusan National UniversityYangsanKorea
  11. 11.Research Center for Rare DiseasesSeoul National University HospitalSeoulKorea
  12. 12.Kidney Research Institute, Medical Research CenterSeoul National University College of MedicineSeoulKorea

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