Isolated primary glucosuria without SGLT2 mutation: A case report

BACKGROUND: Primary renal glucosuria typically results from SLC5A2 mutations affecting SGLT2 and manifests as isolated urinary glucose excretion with normoglycemia. Rarely, sustained glucosuria occurs in the absence of known genetic mutations or systemic disease. CASE PRESENTATION: . He was diagnosed presumptively as primary renal glucosuria of unknown genetic etiology. The patient remains asymptomatic under conservative follow-up. CONCLUSION: This uncommon presentation of long-standing isolated glucosuria without SLC5A2 mutations highlights the need for broader genetic assessment, potentially whole-exome sequencing and enriched understanding of alternative renal glucose transport mechanisms.