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familial renal glucosuria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

familial renal glucosuria

MONDO:0009297

Also known as:Renal GlycosuriaSGLT2 deficiencyrenal diabetes

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Overview

Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2).

GeneticsAutosomal recessive, Autosomal dominant · SLC5A2 (chr 16)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Features include sometimes findings: Enuresis nocturna. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	1	Excessive hunger (polyphagia)

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Genetic Landscape

SLC5A2 function has not been fully characterized.

Familial renal glucosuria is associated with mutations in the SLC5A2 gene on chromosome 16.

Diagnosis

Genetic testing for SLC5A2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

23 publications have been identified in PubMed for familial renal glucosuria. Research spans Case Report / Case Series (55%), Review / Meta-Analysis (32%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Patient case studies	12	55%

Data assembled from 7 of 12 sources · Last updated Oct 4, 2026, 6:17 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:233100

Orphanet

European rare disease database

Orphanet:69076

GARD

Genetic and Rare Diseases Info Center

GARD:7548

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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familial renal glucosuria

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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