During the 2024 Patient Summit, we were joined by 250+ patients and families who were able to gain knowledge and support surrounding their rare kidney disease and how to maintain their health.
D. Wadhwani, nephrologist, presented a session surrounding the new landscape with RKD.
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In this webinar, led by Dr. Chia-Shi Wang from Emory, you will learn more about Nephrotic Syndrome and other rare kidney diseases, and review some of the challenges with managing it.
Dr. Wang also discusses the possibilities of e-Health and how the Internet and mobile devices may improve your health and the care you receive from your doctor!
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Genetic testing is changing the face of medicine. It’s no longer an expensive, out-of-reach option in your diagnostic journey! On Thursday, April 13 at 8 p.m. ET, we were joined by expert nephrologist, Dr. Joshua Zaritsky, to discuss genetics in rare kidney disease (RKD). Some of the topics included:
1. How genetic testing can impact your RKD diagnosis
2. How it can change the treatment course of your disease
3. How to affordably and easily access genetic screening for RKD.
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For Mental Health Awareness Month, NephCure hosted a patient panel focusing on mental health and rare kidney disease. Our patient panelists shed light on the mental health struggles that many RKD patients experience, but also share the hope laced throughout their journeys. Moderated by Montrez Lucas, NephCure’s Associate Director of Patient Navigation, this mental health discussion spotlights the panelists’ coping skills, support systems, and how they continue to brave their physical health battles in the midst of anxiety, depression, and stressors.
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is a rare kidney disorder that begins at birth or within the first 3 months of life.
is also a rare kidney disorder that occurs between 3 months and 1 year of life.
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)
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.
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.
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.
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.
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.
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.
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)
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.
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.
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.
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.
Washington, D.C., December 15, 2023 – NephCure, a leading national patient advocacy organization dedicated to accelerating research and finding better treatments for rare kidney diseases, today applauded the introduction of the New Era of Preventing End-Stage Kidney Disease Act H.R.6790 in the U.S. House of Representatives. The legislation is championed by Representatives Gus Bilirakis (R-FL) and Terri Sewell (D-AL) and represents a crucial step forward in our nation’s efforts to address rare kidney diseases through research, better diagnostics, and physician and patient education.
The New Era of Preventing End-Stage Kidney Disease Act (“New Era Act”) is bipartisan federal legislation that will improve outcomes and quality of life for hundreds of thousands of Americans living with rare kidney disease (RKD) and their families. This legislation will support early intervention, improve access to better treatments, and reduce the physical, psychological, social, and economic impact of RKD through research, better diagnostics, and physician and patient education. The legislation will help mitigate the burden of rare kidney diseases on patients, families, and the health care system, laying the foundation for a new paradigm of proactive and effective kidney disease care.
“Our life-saving legislation will help remove diagnostic and treatment barriers for many patients suffering with a rare disease,” said Congressman Gus Bilirakis. “Through the establishment of Rare Kidney Disease Research Centers of Excellence and increased provider education efforts, we will empower providers to better identify the signs and symptoms of rare kidney disease, which will lead to improved treatment options and better patient outcomes.”
“Far too many people living with rare kidney disease have trouble finding specialized care providers. Increasing awareness and education is crucial to caring for rare kidney disease patients, which is why I’m so proud to introduce the New Era For Preventing End Stage Kidney Disease Act. This legislation will make critical improvements to the way patients with rare kidney disease, especially those in underserved communities, access and receive care,” said Rep. Sewell.
“NephCure commends Congressman Gus Bilirakis (R-FL) and Congresswoman Terri Sewell (D-AL) for championing the New Era of Preventing End-Stage Kidney Disease Act and efforts to see a future in which improved diagnoses, access to treatments, and patient empowerment converge to reshape the trajectory of rare kidney diseases,” said NephCureCEO Joshua Tarnoff. “This bill can change how we take care of rare kidney disease patients through earlier detection and access to the right treatments, providing rare kidney disease education opportunities to doctors and patients, and allocating money for research. We are proud of the essential contributions the rare kidney disease community played in the development and introduction of the New Era of Preventing End-Stage Kidney Disease Act. We are committed to continue working alongside Congressman Bilirakis and Congresswoman Sewell to pass this important legislation in the 118th Congress.”
The New Era Act: A New Approach to Improve the State of Kidney Care
Read the full text of H.R.6790 by clicking here.
NephCure encourages all of its community members to take action now by urging their Members of Congress to support the New Era legislation.
By the Numbers: The State of Kidney Care
About NephCure
NephCure is a leading national patient advocacy organization dedicated to empowering people with rare, protein-spilling kidney disease to take charge of their health, while leading the revolution in research, new treatments, and care. NephCure has invested more than $40 million in kidney disease research and helped create a landscape where there are now new treatments and more than 60 interventional drug trials for rare kidney disease.
NephCure is a registered non-profit (501c3) tax-exempt charitable organization. EIN # 38-3569922.
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