Pediatric Care

Navigating the path of a child diagnosed with a rare, protein spilling kidney disease brings unique challenges for parents. Many questions may arise about the future, treatment options, and the impact of rare kidney disease (RKD) on their child’s future. The pediatric journey is unique and may have special considerations. NephCure is here to provide guidance, resources, and information to support parents through this process. 

RKD Symptoms in Children 

Rare kidney disease in children can present with different symptoms, and they can vary based on  the specific type and stage of the condition. Some children may not have noticeable symptoms until the disease has gotten worse.  

Common symptoms associated with RKD in children: 

  • Swelling (edema) in the face, hands, feet, stomach, or groin 
  • Foamy urine  
  • Protein in urine (proteinuria) detected through a laboratory test 
  • Blood in urine (hematuria) detected through a laboratory test or cola colored urine 
  • Unexplained fatigue 
  • High blood pressure 
  • High cholesterol 
  • Decreased urination 
  • Abdominal pain 
  • Decreased appetite or weight loss 

Diagnosis of Rare Kidney Disease in Children 

Diagnosing rare kidney disease in children can be difficult and often takes time. Many children with RKD are mis-diagnosed with allergies when they present with swelling around the eyes. To ensure your child is diagnosed properly, it’s important to see a pediatrician who considers family history, a physical examination, blood work, and urinalysis. Early diagnosis and intervention are crucial for managing RKD in children. 

Here are the Key Steps in the Diagnosis of RKD in Children:

Click on each step to learn more.


Medical History & Physical Examination
  • The healthcare provider will gather information about the child’s symptoms, overall health, and any family history of kidney disease. 
  • A physical examination may be conducted to check for signs such as swelling, high blood pressure, or abdominal pain.  


Urine Tests and Analysis
  • Urinalysis: A simple urine test can detect the presence of protein, blood or infection in the urine. 
  • Urine protein-to-creatinine ratio (UPCR): This test measures the amount of protein in the urine, helping to identify proteinuria.


Blood Tests
  • Blood urea nitrogen (BUN) and creatinine: Elevated levels of these substances in the blood can indicate impaired kidney function. 
  • Estimated Glomerular filtration rate (eGFR): an estimated measure of kidney function. 
  • Lipid panel: high cholesterol can be a sign of kidney dysfunction. 
  • Electrolyte levels: Imbalances in electrolytes, such as potassium and sodium, may occur with kidney dysfunction. 


Blood Pressure Monitoring
  • Regular monitoring of blood pressure is important, as high blood pressure or hypertension is a common complication of kidney disease. 


Kidney Biopsy
  • If your child is less than 12 months or older than 12 years or does not respond to prednisone, a kidney biopsy may be recommended to obtain a small sample of kidney tissue for detailed examination.  
  • A biopsy may be performed later in the RKD journey to help guide treatment options, check for treatment specific information or determine if the RKD is progressing. 


Genetic Testing
  • If a genetic or hereditary component is suspected, genetic testing may be performed to identify specific gene mutations associated with certain kidney diseases. This can also help guide treatment options.  


Imaging Studies
  • Ultrasound: An ultrasound of the kidneys can provide images to evaluate the size, shape, and structure of the kidneys or detect abnormalities.   


Consultation with a Pediatric Nephrologist
  • A pediatric nephrologist, a doctor specialized in kidney disorders in children, should be consulted for a comprehensive evaluation and management plan.  

Treating RKD 

Treating rare kidney diseases in children often involves a team of experts working together. The specific treatment plan will depend on the type RKD, its severity, and the individual needs of the child. Every child’s treatment journey is unique. The goal of treatment in RKD should be to stop or lower the amount of protein in the urine while balancing all the other symptoms that come along with RKD. Ongoing follow-ups and adjustments to the treatment plan are often necessary as the child grows and the disease evolves.  


Immunosuppressive Drugs

Most children start out on prednisone. Depending on their response to steroids, second line immunosuppressive medications may be prescribed. 

Blood Pressure Medications

If the child has high blood pressure, blood pressure medications may be prescribed to control blood pressure and reduce the risk of further kidney damage. Specific types of blood pressure medications called ACE Inhibitors or ARBs may also be prescribed to help low the amount of protein spilling into the urine. 

Other Medications and Supplements

RKD can cause other conditions such as high cholesterol that require medication or deficiencies like low vitamin d or iron levels that may require supplements. Always check with your doctor before adding new medications or supplements. 

learn more about treatment options

Diet & Nutrition 

Your child’s doctor might suggest changes to their diet to help with symptoms and protect the kidneys from further damage. This could mean limiting salt and controlling how much liquid your child drinks. The pediatric nephrologist will let you know what your child’s specific dietary needs are based on their condition. 

Explore More on Diet & Nutrition

Mental Health Support

Mental health support, including counseling and support groups, can help individuals cope with the emotional and social aspects of the condition and should be a part of your child’s care plan.  

Mental Health and RKD

Monitoring and Supportive Care

  • Regular monitoring of kidney function, blood pressure, protein levels and other parameters is important. Supportive care may include interventions to address complications and maintain overall health and quality of life. 
  • In cases where the rare kidney disease has a genetic basis, genetic counseling may be offered to the family. This can provide information about the likelihood of the disease recurring in future generations and help families make informed decisions. 
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Hear From Other Patients

Each story is a beacon of courage and solidarity. Explore a range of experiences, insights, and triumphs, fostering empathy and empowerment within our community.

NephCure Specialists

Do you suspect you may have a RKD? It is important to see a nephrologist who understands how to manage your type of RKD. Learn more about nephrologists who specialize in rare, protein spilling kidney diseases and how to contact them.

Related Resources


Predictors of Disease Progression: Biomarkers & Tr…

Informational Documents

Talking to Your Child

Educational Materials

School Accomodations

Fact Sheet

Minimal Change Disease (MCD)

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