Idiopathic steroid-resistant nephrotic syndrome

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ORPHA:567548OMIM:619263N04.8
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3FDA treatments1Specialists8Treatment centers3Financial resources

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Overview

Idiopathic steroid-resistant nephrotic syndrome (SRNS) is a serious kidney disease where the tiny filtering units in the kidneys, called glomeruli, stop working properly. In nephrotic syndrome, the kidneys leak large amounts of protein into the urine instead of keeping it in the blood. Normally, doctors treat nephrotic syndrome with steroid medications like prednisone, and most patients respond well. However, in steroid-resistant nephrotic syndrome, the kidneys do not respond to steroids, making the disease much harder to treat and control. The main symptoms include severe swelling (called edema) in the legs, ankles, face, and belly, caused by low protein levels in the blood. People with this condition also have very foamy or frothy urine due to the protein leaking out. Over time, the kidneys can become permanently damaged, and many patients eventually develop chronic kidney disease or kidney failure. The word 'idiopathic' means the exact cause is not always clear, but in many cases — especially in children — a genetic mutation affecting the kidney filter is responsible. There are many genes that can be involved. Treatment focuses on protecting the kidneys, reducing protein loss, and slowing progression to kidney failure. Kidney transplant may be needed in advanced cases. This condition is also sometimes called steroid-resistant nephrotic syndrome (SRNS) or treatment-resistant nephrotic syndrome.

Also known as:

Key symptoms:

Severe swelling in the legs, ankles, feet, and around the eyesSwollen or puffy bellyFoamy or frothy urineFatigue and low energyReduced amount of urineWeight gain from fluid buildupLoss of appetiteHigh blood pressureIncreased risk of infectionsBlood clots in veins or arteriesHigh cholesterol levelsPale or dull-looking skinDifficulty breathing if fluid builds up around the lungs

Clinical phenotype terms (24)— hover any for plain English
Abnormal circulating lipid concentrationHP:0003119Abnormal glomerular visceral epithelial cell morphologyHP:0031265Focal segmental glomerulosclerosisHP:0000097Minimal change glomerulonephritisHP:0012579HypercoagulabilityHP:0100724Respiratory tract infectionHP:0011947Abnormal urine outputHP:0012590Foamy urineHP:0031504Periorbital edemaHP:0100539
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

3 available

Sogroya

somapacitan-beco· Novo Nordisk Pharmaceuticals

Idiopathic Short Stature (ISS)

Rubraca

rucaparib· pharma&
indicated for the treatment of adult patients with a deleterious BRCA mutation (germline and/or somatic)-associated metastatic castration-resistant prostate cancer (mCRPC) who have been treated with a

indicated for the treatment of adult patients with a deleterious BRCA mutation (germline and/or somatic)-associated metastatic castration-resistant prostate cancer (mCRPC) who have been treated with androgen receptor-directed therapy

Lynparza

olaparib· AstraZeneca Pharmaceuticals LP
for the treatment of adult patients with deleterious or suspected deleterious germline or somatic homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mC

for the treatment of adult patients with deleterious or suspected deleterious germline or somatic homologous recombination repair (HRR) gene-mutated metastatic castration-resistant prostate cancer (mCRPC) who have progressed following prior treatment with enzalutamide or abiraterone

No actively recruiting trials found for Idiopathic steroid-resistant nephrotic syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Idiopathic steroid-resistant nephrotic syndrome community →

Specialists

1 foundView all specialists →
SM
Sara Mabrouk Mohamed Elghoul, MD
Specialist
PI on 2 active trials

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

Financial Resources

3 resources
Sogroya(somapacitan-beco)Novo Nordisk Pharmaceuticals
Rubraca(rucaparib)pharma&
Lynparza(olaparib)AstraZeneca Pharmaceuticals LP

Travel Grants

No travel grants are currently matched to Idiopathic steroid-resistant nephrotic syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Idiopathic steroid-resistant nephrotic syndrome

No recent news articles for Idiopathic steroid-resistant nephrotic syndrome.

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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.Should my child or I have genetic testing, and which genes should be tested?,What does the kidney biopsy result mean for my treatment options and long-term outlook?,Which medications will you try first, and how will we know if they are working?,What are the signs that my kidneys are getting worse, and when should I call you or go to the emergency room?,If my kidneys fail, am I a candidate for a kidney transplant, and could the disease come back in the new kidney?,Are there any clinical trials I should know about for SRNS?,What dietary changes do I need to make, and should I see a kidney dietitian?

Common questions about Idiopathic steroid-resistant nephrotic syndrome

What is Idiopathic steroid-resistant nephrotic syndrome?

Idiopathic steroid-resistant nephrotic syndrome (SRNS) is a serious kidney disease where the tiny filtering units in the kidneys, called glomeruli, stop working properly. In nephrotic syndrome, the kidneys leak large amounts of protein into the urine instead of keeping it in the blood. Normally, doctors treat nephrotic syndrome with steroid medications like prednisone, and most patients respond well. However, in steroid-resistant nephrotic syndrome, the kidneys do not respond to steroids, making the disease much harder to treat and control. The main symptoms include severe swelling (called ed

Which specialists treat Idiopathic steroid-resistant nephrotic syndrome?

1 specialists and care centers treating Idiopathic steroid-resistant nephrotic syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Idiopathic steroid-resistant nephrotic syndrome?

1 patient support program are currently tracked on UniteRare for Idiopathic steroid-resistant nephrotic syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.