Overview
Congenital disorder of glycosylation with nephropathy as a major feature (also called CDG with predominant kidney involvement) is an extremely rare inherited metabolic condition. In this disease, the body has trouble with a process called glycosylation, which is how sugars are attached to proteins and fats. These sugar-coated molecules are essential for many organs to work properly. When glycosylation does not work correctly, it can affect multiple body systems, but in this particular group of disorders, the kidneys are especially impacted. Patients typically develop kidney problems (nephropathy) that can include protein leaking into the urine (proteinuria), nephrotic syndrome, and progressive loss of kidney function. Because glycosylation affects many processes throughout the body, patients may also experience developmental delays, growth problems, liver involvement, and other multi-system symptoms. The severity can vary depending on the specific genetic cause. There is currently no cure for this condition. Treatment is mainly supportive and focuses on managing kidney disease, controlling protein loss in the urine, and addressing other organ involvement. Some patients may eventually need dialysis or kidney transplantation if kidney function declines significantly. Early diagnosis and coordinated care from multiple specialists can help manage symptoms and improve quality of life.
Also known as:
Key symptoms:
Protein in the urine (proteinuria)Swelling of the body, especially around the eyes and legs (edema)Progressive kidney diseaseNephrotic syndromeDevelopmental delayPoor growth or failure to thriveLiver problemsLow muscle tone (floppiness)Frequent infectionsAbnormal blood clottingFeeding difficulties in infancyIntellectual disabilityHormonal imbalances
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Congenital disorder of glycosylation with nephropathy as a major feature.
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Specialists
View all specialists →No specialists are currently listed for Congenital disorder of glycosylation with nephropathy as a major feature.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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.What specific type of congenital disorder of glycosylation does my child have, and which gene is affected?,How severe is the kidney involvement right now, and what is the expected course?,Are there any specific supplements or treatments that might help with this particular subtype?,How often should kidney function and other blood tests be monitored?,What signs should I watch for that would require emergency medical attention?,Is my child at risk for needing dialysis or a kidney transplant in the future?,Are there any clinical trials or research studies we should consider?
Common questions about Congenital disorder of glycosylation with nephropathy as a major feature
What is Congenital disorder of glycosylation with nephropathy as a major feature?
Congenital disorder of glycosylation with nephropathy as a major feature (also called CDG with predominant kidney involvement) is an extremely rare inherited metabolic condition. In this disease, the body has trouble with a process called glycosylation, which is how sugars are attached to proteins and fats. These sugar-coated molecules are essential for many organs to work properly. When glycosylation does not work correctly, it can affect multiple body systems, but in this particular group of disorders, the kidneys are especially impacted. Patients typically develop kidney problems (nephropa
How is Congenital disorder of glycosylation with nephropathy as a major feature inherited?
Congenital disorder of glycosylation with nephropathy as a major feature follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.