Familial renal glucosuria is the most common inherited disorder of renal glucose transport, even though it is still an uncommon genetic disorder of the renal tubules. Individuals affected by familial renal glucosuria show glucosuria because of a glucose reabsorption failure in the proximal renal tubule, even in the absence of hyperglycemia. At Protheragen, we offer complete, sequential research service workflows focused on accelerating drug development and diagnostic innovations for uncommon kidney disorders, which include familial renal glucosuria.
Overview of Familial Renal Glucosuria
Familial renal glycosuria is marked by an ongoing renal tubular glycosuria without concurrent hyperglycemia and normal glycemic and tubular function. The prevalence of renal glycosuria is about 0.29% in the general population, with variability based on the population being screened. Individuals with familial renal glucosuria might present with polyuria, enuresis, intermittent dehydration, some degree of growth delay, infections of the genitourinary tract, ketosis of starvation, reduced systemic blood pressure, less obesity, and dermatitis of the diaper region.
Fig.1 Schematic of SGLT2. (Li, S.,
et al., 2019)
Pathogenesis of Familial Renal Glucosuria
Familial renal glycosuria is associated with mutations of the SLC5A2 gene, which encodes the sodium-glucose cotransporter 2 (SGLT2) protein. SGLT 2 is a transmembrane protein located on the brush border of S1 segment proximal tubule cells and is responsible for the reabsorption of close to 90% of the glucose that is filtered. Other genetic conditions associated with renal glucosuria include Fanconi-Bickel syndrome (FBS) and glucose-galactose malabsorption (GGM).
Fig.2 Proximal renal tubule glucose transporters. (Torun Bayram, M., and Kavukcu, S., 2025)
Therapeutics Development for Familial Renal Glucosuria
It seems that no approved medications are currently being created for renal glucosuria because of its benign nature. However, the genetic understanding of familial renal glucosuria, along with the SGLT2 inhibitors canagliflozin, dapagliflozin, and empagliflozin, has greatly enhanced understanding of the kidneys’ part in glucose metabolism.
Our Services
Protheragen's partners in pharmaceuticals and biotechnology will benefit from our team of experts in nephrology, genetics, and drug discovery from target validation through to preclinical development, enabling faster development of therapies for this rare condition. For familial renal glucosuria, we have developed an integrated approach that includes diagnostics, therapeutic development, and disease model development to support drug R&D. As part of our preclinical research, we offer pharmacokinetic profiling and safety assessments to analyze the safety and efficacy of the candidate.
Disease Models Development for Familial Renal Glucosuria
In furtherance of familial renal glucosuria research, we create and verify sophisticated experimental models that recapture the genetic and physiological features of the disease. These include our cell models, organoid models, and animal models, which are essential to understanding the mechanisms of the disease and for therapy and drug testing regarding their effectiveness.
Cell-based & Organoid Models
- Primary renal tubular cells
- Engineered cell lines with pathogenic SLC5A2 mutations
- iPSC-derived cell model
- iPSC-derived kidney organoids
- And more
Animal Models
Animal models for familial renal glucosuria are created by genetically modifying the organism to have a mutation in the SLC5A2 gene.
- SLC5A2 knockout model
- And more
Drug Pharmacokinetics & Safety Evaluation Services
In Vitro ADME Services
- Renal Clearance Assay
- Drug-Transporter Interaction Screening
- Metabolic Stability Assay
- CYP Inhibition Screening
- Plasma Protein Binding
Protheragen offers a unique benefit in familial renal glucosuria research and drug development with integrated knowledge in the biology of rare kidney diseases and genetic validation alongside comprehensive preclinical services, providing clients a streamlined journey from idea to implementation. Precision and innovation tailored to your project's needs are unmatched. Reach out to us today to see how specialized services support your goals.
References
- Torun Bayram, Meral, and Salih Kavukcu. "Renal glucosuria in children." World journal of clinical pediatrics 14.1 (2025): 91622.
- Li, Shentang et al. "A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature." Molecular medicine reports 19.5 (2019): 4364-4376.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
