Abstract:

Renal glucosuria is defined as urinary glucose excretion in the presence of a normal blood glucose concentration and absence of general renal tubular dysfunction. It is caused by the mutations in the SLC5A2 gene, which encodes for SGLT2, one of the transporter proteins that provides secondary active transport during glucose reabsorption in the proximal tubule. A 10-year-old female patient, who was evaluated for glucosuria, had normal vital signs and physical examination. It has been determined that she had 21.2-32 g/day glucosuria. No proteinuria was detected. Tubular functions, creatinine clearence, serum levels of creatinine, uria, uric acid, bicarbonate, electrolytes, fasting blood glucose, HbA1c and OGTT, urinary amino acid chromatography were normal. In urinary sugar chromatography, secretion of sugars other than glucose was not detected. While fasting blood glucose values of her parents were normal, her father's urinary glucose level was 100 mg/dl. According to the examination results, the patient was diagnosed as "renal glucosuria" as there were no other possible causes such as a developmental delay, polyuria, polydipsia, or dehydration

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