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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
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.
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.
- 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.