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Renal glucosuria due to SGLT2 mutations.

Robert Kleta1, Caroline Stuart, Fred A Gill

  • 1Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 10, Room 10C-107, MSC 1851, 10 Center Drive, Bethesda, MD 20892-1851, USA. kletar@mail.nih.gov

Molecular Genetics and Metabolism
|April 28, 2004
PubMed
Summary

Isolated renal glucosuria is caused by mutations in the SGLT2 gene. This study details a patient with compound heterozygous SGLT2 mutations, including a novel T200K missense mutation, leading to glucose in urine.

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Area of Science:

  • Genetics
  • Nephrology
  • Molecular Biology

Background:

  • Isolated renal glucosuria is a condition characterized by glucose in the urine without hyperglycemia.
  • It arises from mutations in the Sodium-Glucose Cotransporter 2 (SGLT2) gene, which encodes a key glucose transporter in the kidney.
  • Differential diagnosis involves excluding hyperglycemia and renal Fanconi syndrome.

Observation:

  • A 19-year-old woman presented with isolated glucosuria.
  • Clinical and molecular data were collected for this patient.
  • She was found to be compound heterozygous for SGLT2 mutations.

Findings:

  • The patient carried two SGLT2 mutations: a previously identified N654S missense mutation and a novel T200K missense mutation.
  • These compound heterozygous mutations in SGLT2 lead to impaired renal glucose reabsorption.

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  • The specific mutations identified contribute to the understanding of SGLT2 function and related disorders.

    • Implications:

    • This case expands the mutational spectrum of SGLT2.
    • Understanding these mutations aids in diagnosing and managing isolated renal glucosuria.
    • Further research into SGLT2 variants can illuminate glucose transport mechanisms and kidney physiology.