Overview
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency is a very rare inherited disease that affects two important body systems at the same time: the kidneys and the adrenal glands. Nephrotic syndrome means the kidneys are not filtering blood properly, causing large amounts of protein to leak into the urine. This leads to swelling (especially in the legs, feet, and around the eyes), low protein levels in the blood, and a higher risk of infections and blood clots. The word 'steroid-resistant' means that the usual first treatment for nephrotic syndrome — steroid medicines like prednisone — does not work for this condition. At the same time, the adrenal glands, which sit on top of the kidneys and make important hormones like cortisol and aldosterone, do not work properly. This is called adrenal insufficiency, and it can cause dangerous drops in blood pressure, extreme tiredness, low blood sugar, and an inability to handle physical stress like illness or injury. This combination of kidney and adrenal problems is caused by changes (mutations) in specific genes that are important for both organs to work correctly. Because both systems are affected, children with this condition need careful monitoring and treatment from multiple specialists. Management focuses on replacing the missing hormones, protecting the kidneys, and preventing life-threatening crises. There is currently no cure, but with the right care, many complications can be managed.
Also known as:
Key symptoms:
Swelling of the legs, feet, ankles, and around the eyes (edema)Large amounts of protein in the urine (foamy or frothy urine)Extreme tiredness and low energyLow blood pressure, especially when standing upLow blood sugar (hypoglycemia)Salt cravingPoor growth and weight gain in infants and childrenFrequent infections due to low protein and immune problemsNausea, vomiting, and stomach painDarkening of the skin in some casesKidney function that gets worse over timeFluid buildup in the belly (ascites)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
1 eventUniversity of California, San Francisco
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Familial steroid-resistant nephrotic syndrome with adrenal insufficiency.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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
No travel grants are currently matched to Familial steroid-resistant nephrotic syndrome with adrenal insufficiency.
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Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene mutation does my child have, and what does that mean for their kidney and adrenal disease?,What are the exact signs of an adrenal crisis, and how do I give the emergency hydrocortisone injection correctly?,How quickly is my child's kidney disease likely to progress, and what can we do to slow it down?,Should other family members be tested for this condition?,What vaccinations does my child need, and are there any they should avoid?,Are there any clinical trials or new treatments we should know about?,What is the plan if my child's kidneys fail — when would dialysis or transplant be considered?
Common questions about Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
What is Familial steroid-resistant nephrotic syndrome with adrenal insufficiency?
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency is a very rare inherited disease that affects two important body systems at the same time: the kidneys and the adrenal glands. Nephrotic syndrome means the kidneys are not filtering blood properly, causing large amounts of protein to leak into the urine. This leads to swelling (especially in the legs, feet, and around the eyes), low protein levels in the blood, and a higher risk of infections and blood clots. The word 'steroid-resistant' means that the usual first treatment for nephrotic syndrome — steroid medicines like
How is Familial steroid-resistant nephrotic syndrome with adrenal insufficiency inherited?
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial steroid-resistant nephrotic syndrome with adrenal insufficiency typically begin?
Typical onset of Familial steroid-resistant nephrotic syndrome with adrenal insufficiency is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Familial steroid-resistant nephrotic syndrome with adrenal insufficiency?
Yes — 1 recruiting clinical trial is currently listed for Familial steroid-resistant nephrotic syndrome with adrenal insufficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Familial steroid-resistant nephrotic syndrome with adrenal insufficiency?
1 specialists and care centers treating Familial steroid-resistant nephrotic syndrome with adrenal insufficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.