OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes

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Overview

Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes is a rare kidney disorder that runs in families. This condition is now considered an obsolete (outdated) diagnostic category in medical classification systems, as advances in genetics have allowed doctors to reclassify many of these cases under more specific genetic diagnoses. In this condition, the kidneys lose their ability to properly filter blood, allowing large amounts of protein to leak into the urine. This protein loss leads to nephrotic syndrome, which causes swelling (edema) throughout the body, particularly in the legs, ankles, and around the eyes. The term '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. 'Minimal changes' refers to the fact that when a kidney biopsy is examined under a regular microscope, the kidney tissue looks nearly normal, even though the kidneys are not working properly. Because this is a familial (inherited) form, multiple family members may be affected. Treatment typically involves immunosuppressive medications, blood pressure control, and management of swelling and protein loss. Many patients with steroid-resistant nephrotic syndrome may eventually progress to kidney failure and require dialysis or kidney transplantation.

Key symptoms:

Swelling around the eyes, especially in the morningSwelling in the legs, ankles, and feetFoamy or frothy urine due to excess proteinWeight gain from fluid retentionFatigue and low energyLoss of appetiteAbdominal swelling or bloatingHigh cholesterol levelsIncreased risk of infectionsIncreased risk of blood clotsDecreased urine outputHigh blood pressure

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

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 minimal changes.

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

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No specialists are currently listed for OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes.

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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

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Questions for your doctor

Bring these to your next appointment

  • Q1.Should my child or I have genetic testing to identify the specific cause of this condition?,Are other family members at risk and should they be tested?,What treatment options are available since steroids are not effective?,What is the likelihood of progressing to kidney failure, and over what timeframe?,If a kidney transplant is needed, what is the risk of the disease coming back in the new kidney?,Are there any clinical trials or new treatments being studied for this condition?,What dietary changes should we make, and should we see a dietitian?

Common questions about OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes

What is OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes?

Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes is a rare kidney disorder that runs in families. This condition is now considered an obsolete (outdated) diagnostic category in medical classification systems, as advances in genetics have allowed doctors to reclassify many of these cases under more specific genetic diagnoses. In this condition, the kidneys lose their ability to properly filter blood, allowing large amounts of protein to leak into the urine. This protein loss leads to nephrotic syndrome, which causes swelling (edema) throughout the body, particularly

At what age does OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes typically begin?

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