Familial renal glucosuria presenting as paroxysmal glucosuria and hypercalciuria due to a novel SLC5A2 heterozygous variant
| Autor: | Robin Van Lerberghe, Elien Mahieu, Johan Vanuytsel, Karen Vanhaute, Celine Vanfraechem, Laurens Claeys |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | European Journal of Case Reports in Internal Medicine (2023) |
| Druh dokumentu: | article |
| ISSN: | 2284-2594 89795717 |
| DOI: | 10.12890/2023_004157 |
| Popis: | Familial renal glucosuria (FRG) is a rare genetic disease characterised by isolated glucosuria in the absence of proximal tubular dysfunction. It usually occurs due to a mutation in the SLC5A2 gene encoding the sodium-glucose cotransporter-2 (SGLT2), responsible for most of the renal glucose reabsorption. We report on a case of a patient presenting with paroxysmal glucosuria and hypercalciuria due to a novel SLC5A2 heterozygous variant. |
| Databáze: | Directory of Open Access Journals |
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