Overview
Genetic nephrotic syndrome is a kidney disease caused by changes (mutations) in specific genes. These gene changes damage tiny filtering units in the kidneys called glomeruli, which normally keep important proteins — especially albumin — inside the blood. When the glomeruli are damaged, protein leaks out into the urine instead of staying in the body. This leads to a group of problems: large amounts of protein in the urine (called proteinuria), low protein levels in the blood, swelling in the body (especially in the legs, belly, and around the eyes), and high cholesterol levels. Unlike nephrotic syndrome caused by infections or immune problems, the genetic form is caused by inherited gene variants and does not usually respond to steroid medications, which is why it is sometimes called 'steroid-resistant nephrotic syndrome.' There are many different genes that can cause this condition, and the specific gene involved affects how severe the disease is and how quickly it progresses. Some forms appear at birth or in early infancy, while others develop later in childhood or even adulthood. Over time, many people with genetic nephrotic syndrome develop chronic kidney disease, and some eventually need dialysis or a kidney transplant. Treatment focuses on protecting the kidneys, managing symptoms like swelling and high blood pressure, and slowing the progression of kidney damage. Knowing the exact gene mutation is very important because it guides treatment decisions and helps predict how the disease will behave.
Also known as:
Key symptoms:
Large amounts of protein leaking into the urine (urine may appear foamy or frothy)Swelling (edema) in the legs, ankles, feet, belly, and around the eyesLow levels of protein (albumin) in the bloodHigh cholesterol and triglyceride levels in the bloodWeight gain from fluid buildupFatigue and low energyReduced urine outputHigh blood pressureIncreased risk of infectionsIncreased risk of blood clotsSlow growth or poor weight gain in childrenGradual decline in kidney function over time
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsNational Cancer Institute (NCI) — NA
Beth Israel Deaconess Medical Center
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Genetic nephrotic syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersNational Institutes of Health Clinical Center
📍 Bethesda, Maryland
👤 Payal P Khincha, M.D.
👤 Christopher Grunseich, M.D.
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 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
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🏥 NORDBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
Travel Grants
No travel grants are currently matched to Genetic nephrotic syndrome.
Community
No community posts yet. Be the first to share your experience with Genetic nephrotic syndrome.
Start the conversation →Latest news about Genetic nephrotic syndrome
Disease timeline:
New trial: Collection of Serum and Tissue Samples From Patients With Biopsy-Proved or Suspected Malignant Disea
Phase NA trial recruiting.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Which specific gene mutation do I (or my child) have, and what does that mean for how the disease will progress?,Should my other children or family members be tested for this gene mutation?,Will steroid medications help, or is this a steroid-resistant form of nephrotic syndrome?,How quickly might kidney function decline, and what signs should I watch for at home?,Are there any targeted treatments available for the specific gene mutation identified in my case?,When should we start thinking about kidney transplantation, and what does that process look like?,Are there any clinical trials or research studies I should know about for this condition?
Common questions about Genetic nephrotic syndrome
What is Genetic nephrotic syndrome?
Genetic nephrotic syndrome is a kidney disease caused by changes (mutations) in specific genes. These gene changes damage tiny filtering units in the kidneys called glomeruli, which normally keep important proteins — especially albumin — inside the blood. When the glomeruli are damaged, protein leaks out into the urine instead of staying in the body. This leads to a group of problems: large amounts of protein in the urine (called proteinuria), low protein levels in the blood, swelling in the body (especially in the legs, belly, and around the eyes), and high cholesterol levels. Unlike nephroti
Are there clinical trials for Genetic nephrotic syndrome?
Yes — 1 recruiting clinical trial is currently listed for Genetic nephrotic syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Genetic nephrotic syndrome?
4 specialists and care centers treating Genetic nephrotic syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.