Familial renal glucosuria

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ORPHA:69076OMIM:233100E74.8
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Overview

Familial renal glucosuria (also called familial renal glycosuria or benign glucosuria) is a rare inherited kidney condition where the kidneys spill sugar (glucose) into the urine even when blood sugar levels are completely normal. In healthy kidneys, almost all glucose filtered from the blood is reabsorbed back into the body. In people with this condition, the kidneys cannot do this job properly, so glucose leaks out in the urine. This happens because of changes (mutations) in a gene called SLC5A2, which controls a protein that helps the kidneys recapture glucose. Most people with familial renal glucosuria have no symptoms at all and live completely normal lives. The condition is often discovered by accident during a routine urine test. In more severe cases, some people may experience increased thirst, more frequent urination, or low energy — especially if large amounts of glucose are lost. There is no damage to the kidneys themselves. Because this condition is generally harmless, most people do not need any treatment. The main goal of care is to make sure the glucose in the urine is not caused by diabetes or another serious condition. Once that is confirmed, regular monitoring is usually all that is needed. People with the most severe form (Type C or 'true' renal glucosuria) may need to pay attention to staying well hydrated and maintaining good nutrition.

Also known as:

Key symptoms:

Glucose (sugar) found in urine despite normal blood sugar levelsIncreased thirst in some casesMore frequent urination in some casesMild fatigue or low energy in severe casesDehydration if fluid intake is not kept upUnexplained weight loss in rare severe casesNo symptoms at all in most people

Clinical phenotype terms (13)— hover any for plain English
Renal tubular dysfunctionHP:0000124GlycosuriaHP:0003076KetosisHP:0001946Moderate postnatal growth retardationHP:0008855EnuresisHP:0000805HyperglycemiaHP:0003074Abnormal oral glucose toleranceHP:0004924Abnormal circulating insulin concentrationHP:0040214Elevated hemoglobin A1cHP:0040217
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Familial renal glucosuria.

View clinical trials →

No actively recruiting trials found for Familial renal glucosuria at this time.

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Search ClinicalTrials.gov ↗Join the Familial renal glucosuria community →

No specialists are currently listed for Familial renal glucosuria.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Familial renal glucosuria.

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Community

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Latest news about Familial renal glucosuria

Disease timeline:

New recruiting trial: Effect of Empagliflozin on Metabolic Outcomes in Adults Living With HIV Receiving Dolutegravir-Based Therapy

A new clinical trial is recruiting patients for Familial renal glucosuria

Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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Family & Caregiver Grants

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Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How do I know for certain this is familial renal glucosuria and not diabetes or another condition?,Should other family members be tested for this condition?,How often do I need follow-up urine and blood tests?,Are there any dietary changes or precautions I should take?,Could this condition affect my kidneys or overall health over time?,Should I carry any medical information card or alert in case of emergency?,Is genetic counseling recommended for family planning?

Common questions about Familial renal glucosuria

What is Familial renal glucosuria?

Familial renal glucosuria (also called familial renal glycosuria or benign glucosuria) is a rare inherited kidney condition where the kidneys spill sugar (glucose) into the urine even when blood sugar levels are completely normal. In healthy kidneys, almost all glucose filtered from the blood is reabsorbed back into the body. In people with this condition, the kidneys cannot do this job properly, so glucose leaks out in the urine. This happens because of changes (mutations) in a gene called SLC5A2, which controls a protein that helps the kidneys recapture glucose. Most people with familial re