OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation

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Overview

Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation is a very rare inherited kidney disease. Note that this condition is now classified as 'obsolete' in medical databases, meaning it has been reclassified or merged into broader categories of steroid-resistant nephrotic syndrome (SRNS). In this condition, the kidneys lose their ability to properly filter blood, allowing large amounts of protein to leak into the urine. The term 'nephrotic syndrome' refers to a group of symptoms that occur when the kidneys are damaged, including severe swelling (edema), high levels of protein in the urine, low protein levels in the blood, and high cholesterol. The word 'steroid-resistant' means that the condition does not improve with standard steroid medications like prednisone, which are usually the first treatment tried for nephrotic syndrome. 'Diffuse mesangial proliferation' describes a specific pattern of damage seen under the microscope when a kidney biopsy is performed — it means that certain support cells within the kidney's filtering units (glomeruli) have multiplied abnormally. Because this condition runs in families ('familial'), it is believed to be caused by genetic mutations affecting the structure or function of the kidney's filtering barrier. Over time, this disease can lead to progressive kidney damage and may eventually result in kidney failure requiring dialysis or transplantation. Treatment focuses on managing symptoms, protecting kidney function, and addressing complications.

Key symptoms:

Severe swelling of the face, legs, ankles, and feet (edema)Foamy or frothy urine due to excess proteinWeight gain from fluid retentionFatigue and low energyLoss of appetiteHigh cholesterol levelsIncreased risk of infectionsIncreased risk of blood clotsHigh blood pressureReduced urine outputAbdominal swelling or bloatingFailure to respond to steroid medications

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation.

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No actively recruiting trials found for OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation at this time.

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No specialists are currently listed for OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation.

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 OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation.

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What specific genetic mutation is causing my child's nephrotic syndrome, and how does it affect treatment options?,Are there any immunosuppressive medications worth trying even though steroids did not work?,How quickly is kidney function expected to decline, and what can we do to slow it down?,If a kidney transplant is needed, what is the risk of the disease coming back in the new kidney?,Should other family members or siblings be tested for this genetic condition?,Are there any clinical trials or new treatments being studied for this condition?,What dietary changes and lifestyle modifications will help manage symptoms?

Common questions about OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation

What is OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation?

Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation is a very rare inherited kidney disease. Note that this condition is now classified as 'obsolete' in medical databases, meaning it has been reclassified or merged into broader categories of steroid-resistant nephrotic syndrome (SRNS). In this condition, the kidneys lose their ability to properly filter blood, allowing large amounts of protein to leak into the urine. The term 'nephrotic syndrome' refers to a group of symptoms that occur when the kidneys are damaged, including severe swelling (edema), h

How is OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation inherited?

OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation typically begin?

Typical onset of OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation is childhood. Age of onset can vary across affected individuals.