Examination of Symptoms, Findings, and Molecular Analysis Results in Pediatric Cases Diagnosed with Familial Renal Glucosuria

INTRODUCTION: Familial renal glucosuria (FRG) is a genetic disorder characterized by increased renal glucose excretion despite normal plasma glucose levels. This condition generally has a benign course and is caused by mutations in the SLC5A2 gene, which impair the function of the SGLT2 protein responsible for glucose reabsorption in the kidneys.
METHODS: This study aimed to examine the genetic and clinical characteristics of eight patients diagnosed with FRG who presented to the pediatric department of Düzce University Research and Application Hospital between 2015 and 2021.
RESULTS: Genetic analyses revealed different mutations in the SLC5A2 gene, and their relationships with clinical symptoms were evaluated. The most common symptoms were sudden hunger, polydipsia, and polyuria, with a higher frequency of polyuria and polydipsia observed in male patients.
DISCUSSION AND CONCLUSION: This study emphasizes that the symptomatic course and clinical manifestations of FRG may vary depending on factors such as sex and the type of genetic mutation. Additionally, the findings provide insights into the potential side effects of SGLT2 inhibitors. However, the limitations of the study include the small sample size and its retrospective design. Therefore, future studies with larger sample sizes are needed to improve the accuracy and reliability of these findings.

Keywords: Familial renal glucosuria, SGLT2 protein, SLC5A2 gene mutation.