Q&A About Rare Kidney Disease (RKD) with Agnes Swiatecka-Urban, MD

Rare kidney disease (RKD) doesn’t affect as many people as chronic kidney disease (CKD). But with RKD, there are significantly more variables and unanswered questions about what causes kidney damage, why these conditions occur, and how they should be treated.

In her research, Agnes Swiatecka-Urban, MD, has explored several rare kidney diseases. This is in addition to maintaining a clinical practice that cares for children with RKD and CKD.

She has been nominated as the nephrotic syndrome specialist by the NephCure Foundation, a nonprofit organization dedicated to improving the lives of young people afflicted by kidney disease. The doctor is also a NephCure Established Investigator Awardee.

Swiatecka-Urban has served as a principal investigator for NIH-funded research to better understand diseases such as:

• Minimal change disease (MCD)
• Focal segmental glomerulosclerosis (FSGS)
• Membranous nephropathy (MN)
• IgA nephropathy (IGAN)

She has led multidisciplinary research into cystic fibrosis–associated kidney disease, supported by funding from the Cystic Fibrosis Foundation.

What are you most passionate about?

My passion is preventing disease. I focus a lot on trying to prevent or slow down the disease. That’s where I spend a lot of time with patients.

I have been particularly interested in nephrotic syndrome.

How does nephrotic syndrome present?

Nephrotic syndrome presents with severe edema and loss of protein in the urine.

What causes the severe edema?

Even though the total body edema resulting from urinary protein losses in nephrotic syndrome has been recognized since antiquity, causes have not been completely elucidated. Nephrin is a transmembrane protein and a critical component of the glomerular podocyte slit diaphragm. Mislocalization or mutations in the nephrin gene contribute to certain forms of nephrotic syndrome.

We have been studying how nephrin maintains the integrity of the podocyte slit diaphragm to inform how to repair its abnormal function in nephrotic syndrome.

How is care for RKD different at UVA Health Children’s?

Patients who come to see us will get a comprehensive care approach. Our team has many experts, including nurse care coordinators, social workers, psychologists, and dietitians. This structure allows us to tailor care plans and address the medical and psychosocial aspects of rare kidney disease.