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Congenital Nephrotic Syndrome & Infantile Nephrotic Syndrome

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Congenital Nephrotic Syndrome (CNS)

is a rare kidney disorder that begins at birth or within the first 3 months of life.

Infantile Nephrotic Syndrome (INS)

is also a rare kidney disorder that occurs between 3 months and 1 year of life.

Overview and Symptoms:

Focal Segmental Glomerulosclerosis (FSGS) is a rare kidney disease characterized by dysfunction in the part of the kidney that filters blood (glomeruli). Only some glomeruli are affected, but continued damage can lead to kidney failure.

Protein in the urine, which can be foamy (proteinuria)

Low levels of protein in the blood (hypoalbuminemia)

Swelling in parts of the body, most noticeable around the eyes, hands, feet, and abdomen (edema)

High Triglyceride levels

Can cause high blood pressure (hypertension) and high fat levels in the blood (high cholesterol)

Fast Facts

The majority of CNS and INS cases are caused by genetic changes that cause defects in the filtering units of the kidneys.

80% of CNS cases are caused by four different gene mutations: NPHS1 and NPHS2 (the most common types), PLCE1, WT1, LAMB2

2/3 of INS cases are explained by four gene mutations: NPHS1, NPHS2, LAMB2, or WT1.

The majority of CNS mutations (NPHS1 or NPHS2) are autosomal recessive diseases, meaning both parents are carriers of CNS and the possibility of having an affected child is 25% (or 1 in 4 children will have the disease).

NPHS1 is also known as the Finnish-type of CNS, and is most commonly found in people with Finnish ancestry. Non-Finnish individuals often have NPHS2 mutations.

Children with NPHS1 mutations are often born prematurely with low birth weight.

Infants with CNS may have failure to thrive, have frequent life-threatening infections, and be at risk for abnormal blood clotting.

Many CNS patients develop end-stage kidney disease develop end-stage kidney disease between ages 2 and 8, and require dialysis and transplant.

Biopsy findings usually indicate FSGS.

Some causes of CNS/INS are not genetic. Other non-genetic causes include infections such as cytomegalovirus, congenital syphilis, and congenital toxoplasmosis.

Treating Your Disease

Short-Term Goals

Supplement the protein spillage through albumin infusions, provide a high-calorie diet due to the risk for poor growth, and monitor for the development of anemia and hypothyroidism. Immunoglobulin replacement may also be needed if infections are frequent or severe. Often medications such as ACE inhibitors and nonsteroidal anti-inflammatory drugs may be used to slow the spillage of protein in the urine.

Long-Term Goals

Removal of the kidneys may be necessary with a need for dialysis until kidney transplantation can occur.

There are no FDA-approved treatment options for Congenital and Infantile Nephrotic Syndrome. Often, genetic forms of Congenital and Infantile Nephrotic Syndrome patients do not respond to steroids and most do not respond to immunosuppressant medications. Treatments are aimed at controlling the symptoms, such as swelling, high blood pressure, and high cholesterol, and reducing the risks of blood clots and infections. Many patients require a bilateral nephrectomy (removal of kidneys), need dialysis, and are referred for a transplant.

Recommended Management:

  • Genetic testing is a priority, after infectious screening is negative
  • Optimize nutritional intake with high-calorie and high-protein diet
  • Albumin infusions are often needed to manage swelling
  • Closely monitor intake and output

The Following Measures May Be Needed to Improve Health Outcomes:

  • Prevent infections and may need immunoglobulin replacement
  • Prevent high blood pressure
  • Prevent blood clots or thrombosis Prevent anemia
  • Prevent severe edema
  • Prevent dehydration
  • Prevent malnutrition
  • Thyroxine therapy for hypothyroidism
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APOL1 Kidney Disease

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African Americans make up 13% of the US population but account for nearly 35% of people with kidney failure in the US.

NephCure is here to help change that. We are a nonprofit patient advocacy group dedicated to empowering people with APOL1 kidney disease, and other rare, protein-spilling kidney diseases, to take charge of their health while leading the revolution in research, new treatments, and care.

Fast Facts

1 in 8 African Americans is at risk of a genetic form of kidney disease (caused by the APOL1 gene mutations).

APOL1 kidney disease is particularly
aggressive and currently has no
FDA-approved treatments.

APOL1 kidney disease most frequently affects individuals of African descent (i.e., people who identify as Black, African American, Hispanic/Latino, or Afro-Caribbean) in early-mid adulthood.

Approximately 40% of African Americans on dialysis have kidney failure caused by APOL1.

You may be experiencing kidney disease and be unaware — 90% of people have no visible symptoms.

What is APOL1 Kidney Disease?

Every person inherits one copy of the APOL1 gene from each parent. Sometimes, there is a mutation in one or both of the APOL1 genes. Those who inherit two mutations of the APOL1 genes have 10x-30x the risk of developing kidney disease. These mutations are only found in people of African descent.

Partner with us to change the story of APOL1 and kidney disease in African American communities.

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IgA Nephropathy (IgAN)

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Overview and Symptoms:

IgA Nephropathy (IgAN) is an autoimmune disease that affects the filters (glomeruli) of the kidneys. IgA is an immunoglobulin that is part of an individual’s healthy immune system. The IgA immunoglobulin normally attaches itself to an infection found in the body, triggering an immune response, and works to eliminate the infection. When an individual has IgA Nephropathy, a defective form of IgA attaches itself to another IgA molecule instead of an infection, causing an immune complex. These then become stuck in the kidneys’ glomeruli, which damages the kidneys’ filters, causing blood and proteins to leak out of the kidneys and into the urine.

Dark, cola-colored urine

Protein in the urine, which can be foamy (called proteinuria)

Low blood protein level shown in a blood test

Swelling in the face, eyes, and lower extremities

Weight gain due to extra fluid building up in your body

Can cause high blood pressure (called hypertension) and high fat levels in the blood (high cholesterol)

Fast Facts

IgAN is the most common form of primary glomerulonephritis that affects about 200,000-350,000 people per year in the world.

It can be diagnosed in both children and adults, but is most commonly diagnosed in young and middle- aged adults.

Scientists have not found the cause of the defective IgA immunoglobulin in patients who suffer from IgAN.

The only way to diagnose IgAN is a kidney biopsy to look at the kidney’s filtering units under a microscope. The buildup of IgA deposits causes inflammation and damages the filtering units of the kidneys.

On average, 20% of patients will progress to end-stage kidney disease.

It is common for IgAN to return after a kidney transplant

Asians and Caucasians are most likely to be diagnosed with IgAN.

IgAN is twice as common in males than females

Treating Your Disease

Short-Term Goals

The short-term goal of treatment is to stop or lower the amount of protein and blood spilling into the urine and reduce symptoms.

Long-Term Goals

The long-term goals of treatment include preventing relapses of protein and blood in the urine and preventing the deterioration of kidney function.

There are currently two FDA-approved treatment options for IgA Nephropathy. Contact your doctor to ask about the best treatment option for you.

How to Live With Your Disease

1

Following a low fat, low sodium diet will help improve your kidneys’ function and your IgAN symptoms.

2

Finding a nephrologist that specializes in IgAN is very important to your long-term health.

3

Learn about your disease, treatment options, and clinical trials in order to better advocate for yourself.

4

NephCure Kidney International can help you connect with other patients and find support to manage your disease.

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Nephrotic Syndrome

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Nephrotic Syndrome is a collection of signs and symptoms characterized by dysfunction in the part of the kidney that filters blood (glomeruli). Nephrotic Syndrome can be diagnosed with a urine test.

Common Symptoms:

Protein in the urine, which can be foamy (proteinuria)

Low levels of protein in the blood (hypoalbuminemia)

Swelling in parts of the body, most noticeable around the eyes, hands, feet, and abdomen (edema)

Weight gain due to extra fluid building up in your body

Can cause high blood pressure (hypertension) and high fat levels in the blood (high cholesterol)

Fast Facts

FSGS causes Nephrotic Syndrome in adults more frequently than in children and is most prevalent in adults 45 years or older.

Minimal Change Disease is the most common cause of Nephrotic Syndrome in children, associated with 80% of cases.

In the United States, adult incidence of primary Nephrotic Syndrome each year is 3 out of every 100,000 individuals.

2-4 out of every 100,000 children are diagnosed with primary Nephrotic Syndrome each year in North America.

Some of the diseases that cause Nephrotic Syndrome include Minimal Change Disease, FSGS, and Membranous Nephropathy. These diseases are called “idiopathic” because they occur without a known cause.

Although primary Nephrotic Syndrome is a rare disease, anyone can get it. In fact, it’s one of the most common contributors of Chronic Kidney Disease in children.

Remission means there is currently
no protein spilling into the urine.

Each Nephrotic Syndrome patient follows a unique journey.

Males are more likely to have Nephrotic Syndrome than females.

Nephrotic Syndrome is often misdiagnosed as allergies.

Conditions that occur in other parts of the body can cause secondary Nephrotic Syndrome. These conditions include diabetes, cancer, lupus, amyloidosis, infection, drug use, allergies, and vasculitis.

Treating Your Disease

Short-Term Goals

The short-term goal of treatment is to stop protein spillage completely (remission) or lower the amount of protein lost in the urine as much as possible.

Long-Term Goals

The long-term Goals of treatment include preventing relapses of protein in the urine and preventing the deterioration of kidney function.

There are currently very few FDA-approved treatment options for Nephrotic Syndrome. The standard first-line treatment for Nephrotic Syndrome is Prednisone, a corticosteroid.

How to Live With Your Disease

1

Following a low fat, low sodium diet will help improve your kidneys’ function and your Nephrotic Syndrome symptoms.

2

Finding a nephrologist that specializes in Nephrotic Syndrome is very important to your long-term health.

3

Learn about your disease, treatment options, and clinical trials in order to better advocate for yourself.

4

NephCure Kidney International can help you connect with other patients and find support to manage your disease.

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C3 Glomerulopathy (C3G)

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Overview of C3G:

C3G stands for complement 3 glomerulopathy, a very rare and chronic disease that causes the kidneys to not work properly. The C3 refers to a key blood protein that plays an important role in your immune system. The G stands for glomerulopathy or damage to the filtering units of the kidney. Physician experts believe that when complement proteins like C3, which are part of your immune system, are not well controlled, it results in damage to the kidneys’ filtering units (glomeruli).

What is the “Complete System”?

It is a group of proteins that help, or complement, your immune system to fight bacteria and viruses. If the complement system becomes overactive, the C3 complement proteins are broken down and trapped in the kidneys. The trapped C3 causes a series of reactions that damage your glomeruli (filtering units in the kidney).

Symptoms:

High levels of protein in urine (proteinuria)

Blood in urine (hematuria)

Low levels of protein in the blood
(hypoalbuminemia)

Swelling in many areas of the body
(edema)

Dark and/or foamy urine

High blood pressure (Hypertension)

Decreased urine output

Elevated creatinine in the blood

Fast Facts

Children with C3G tend to be more responsive to treatment than adults

Genetic changes or the development of abnormal antibodies in your immune system are the most common causes of C3G

C3G affects 2-3 per 1 million people

Steroids and other immunosuppressive therapies can be effective in C3G

C3G affects people of all ages

Treating Your Disease

Short-Term Goals

The short-term goal of treatment is to stop protein spillage completely (remission) or lower the amount of protein lost in the urine as much as possible.

Long-Term Goals

The long-term Goals of treatment include preventing relapses of protein in the urine and preventing the deterioration of kidney function.

There are currently no FDA-approved treatment options for C3G. Standard first-line treatments for C3G are blood pressure medications, like lisinopril and ibesartan, and immunosuppressants, like steroids and mycophenolate mofetil (MMF or Cellcept).

How to Live With Your Disease

1

Following a low fat, low sodium diet will help improve your kidneys’ function and your C3G symptoms.

2

Finding a nephrologist that specializes in C3G is very important to your long-term health.

3

Learn about your disease, treatment options, and clinical trials in order to better advocate for yourself.

4

NephCure Kidney International can help you connect with other patients and find support to manage your disease.

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Membranous Nephropathy (MN)

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Overview and Symptoms:

Membranous Nephropathy (MN) is a rare kidney disease characterized by thickening in the part of the kidney that filters blood: the glomerular basement membrane. The thicker membrane does not work normally and causes protein that belongs in the blood to be spilled into the urine.

Early symptoms of Membranous Nephropathy:

Swelling in parts of the body, most noticeably around the eyes, hands, feet, and abdomen (called edema)

Protein in the urine, which can be foamy (called proteinuria)

Can cause high blood pressure (called hypertension) and high fat levels in the blood (high cholesterol)

Low levels of protein in the blood

Fast Facts

The only way to differentiate membranous nephropathy from other primary nephrotic syndrome conditions is to have a kidney biopsy.

MN occurs more frequently in adults than in children and is most prevalent in adults 40 years or older.

MN is associated with less than 5% of all new cases of nephrotic syndrome in children each year.

Some patients with membranous nephropathy are steroid-resistant.

MN is the most common cause of primary nephrotic syndrome in Caucasian adults.

Treating Your Disease

Short-Term Goals

The short-term goal of treatment is to stop protein from spilling completely (remission) or lower the amount of protein lost in the urine as much as possible.

Long-Term Goals

The long-term goals of treatment include preventing relapses of protein in the urine and preventing the deterioration of kidney function.

There are no currently FDA-approved medication options for MN. The standard first-line treatment for MN is prednisone, a corticosteroid.

How to Live With Your Disease

1

Following a low fat, low sodium diet will help improve your kidneys’ function and your MN symptoms.

2

Finding a nephrologist that specializes in MN is very important to your long-term health.

3

Learn about your disease, treatment options, and clinical trials in order to better advocate for yourself.

4

NephCure can help you connect with other patients and find support to manage your disease.

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Minimal Change Disease (MCD)

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Overview and Symptoms:

Minimal Change Disease (MCD) is a disorder affecting the filtering units of the kidney (glomeruli) that can lead to symptoms associated with Nephrotic Syndrome. Some symptoms of NS include:

Proteinuria– Large amounts of protein ‘spilling’ into the urine

Edema – Swelling in parts of the body, most noticeable around the eyes, hands, and feet that become painful

Hypertension – High blood pressure

Hypoproteinemia – Low blood protein

Hypercholesterolemia – High level of cholesterol

Fast Facts

MCD is the most common cause of NS in children associated with 80 to 90% of cases.

It is also seen in adults, but makes up only 10 to 15% of NS cases.

Up to 50% of adult MCD patients that go into
remission will relapse.

Males are twice as likely to have MCD as females.

If MCD does not recur for three years, there is a good chance that it will not return.

Treating Your Disease

Short-Term Goals

The short-term goal of treatment is to stop protein from spilling completely (remission) or lower the amount of protein lost in the urine as much as possible

Long-Term Goals

The long-term goals of treatment include preventing relapses of protein in the urine and preventing the deterioration of kidney function.

There are no currently FDA-approved medication options for MCD. The standard first-line treatment for MCD is Prednisone, a corticosteroid.

How to Live With Your Disease

1

Following a low fat, low sodium diet will help improve your kidneys’ function and your MCD symptoms.

2

Finding a nephrologist that specializes in MCD is very important to your long-term health.

3

Learn about your disease, treatment options, and clinical trials in order to better advocate for yourself.

4

NephCure Kidney International can help you connect with other patients and find support to manage your disease.

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Focal-Segmental-Glomerulosclerosis (FSGS)

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Overview and Symptoms:

Focal Segmental Glomerulosclerosis (FSGS) is a rare kidney disease characterized by dysfunction in the part of the kidney that filters blood (glomeruli). Only some glomeruli are affected, but continued damage can lead to kidney failure.

Protein in the urine, which can be foamy (proteinuria)

Low levels of protein in the blood (hypoalbuminemia)

Swelling in parts of the body, most noticeable around the eyes, hands, feet, and abdomen (edema)

Weight gain due to extra fluid building up in your body

Can cause high blood pressure (hypertension) and high fat levels in the blood (high cholesterol)

Fast Facts

FSGS occurs more frequently in adults than in children and is most prevalent in adults 45 years or older.


African Americans are 5 times more likely to get FSGS in comparison with the general population

Every FSGS patient follows a unique journey.


Focal Segmental Glomerulosclerosis is one of the leading causes of End Stage Renal Disease (ESRD) in children


FSGS is associated with up to 20% of all new cases of Nephrotic Syndrome in children each year.

Treating Your Disease

Short-Term Goals

The short-term goal of treatment is to stop protein spillage completely (remission) or lower the amount of protein lost in the urine as much as possible.

Long-Term Goals

The long-term Goals of treatment include preventing relapses of protein in the urine and preventing the deterioration of kidney function.

There are currently no FDA-approved treatment options for FSGS. The standard first-line treatment for FSGS is Prednisone, a corticosteroid.

How to Live With Your Disease

1

Following a low-fat, low-sodium diet will help improve your kidneys’ function and your FSGS symptoms.

2

Finding a nephrologist who specializes in FSGS is very important to your long-term health.

3

Learn about your disease, treatment options, and clinical trials in order to better advocate for yourself.

4

NephCure Kidney International can help you connect with other patients and find support to manage your disease.

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