Living with Familial renal glucosuria
A rare kidney condition in which sugar (glucose) passes into the urine even when blood sugar is normal or low.
Understanding Familial renal glucosuria
It happens because parts of the kidney filter (the renal tubules) don't work as usual. Most people have no apparent symptoms. Rarely, people have increased urine output, bedwetting, or mild delays in growth and puberty.
Signs & symptoms
Most people have no symptoms. GARD lists these among the findings:
- Glucose in the urine
- Kidney tubule problems
- Increased urine output (polyuria)
- Bedwetting (enuresis)
- Mild growth delay in children
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in SLC5A2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Association of Kidney Patients and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
When it occurs alone with normal kidney function, it is thought to be caused by changes in the SLC5A2 gene. It can be passed down in an autosomal dominant or autosomal recessive way.
Also known as: familial renal glycosuria; glys; renal diabetes; renal glucosuria, autosomal dominant; renal glycosuria; sglt2 deficiency
Patient organizations
- American Association of Kidney PatientsFamilial renal glucosuria · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial renal glucosuria.
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