Could urine hold the answers for rare kidney disease diagnosis and care?

01 May 2026

In a research study published in the Journal of Cell Science, Professor John Sayer, Dr Praveen Dhondurao Sudhindar and the team at Newcastle University, with funding from Kidney Research UK, have shown that by studying urine from patients with a rare kidney disease, called nephronophthisis, we can improve understanding of disease processes and test treatments to try and protect the kidneys.

John, standing next to his lab bench — Professor John Sayer

What is nephronophthisis?

Nephronophthisis is an inherited condition which affects the kidneys. It is the most common cause of kidney failure in children and young adults. In nephronophthisis scar tissue and cysts form, replacing healthy tissue in the kidney, causing loss of kidney function.

Get more info about nephronophthisis

What can urine tell us about rare kidney disease and potential treatments?

When the fluid that forms urine passes through tiny tubes within the kidney, some of the cells lining these tubes are shed. This means that cells from inside the kidney can be studied in urine samples.

John, Praveen and the team looked at kidney cells from urine samples donated by a family with nephronophthisis. By looking at the genes expressed, they were able to identify how the cells were affected by the disease and test drug treatments. This identified a potential new medication called AG556, which was able to repair the kidney cells from some of the effects of the disease.

“Our work shows that by collecting urine samples we can not only learn more about the changes that happen in rare kidney disease, but we can also screen treatments to see which might be most effective. Although further research is needed, this is an important step forward for those living with less-frequently seen diseases.” Professor John Sayer

Praveen, wearing white lab coat standing in his rea=search lab. — Dr Praveen Dhondurao Sudhindar

What could this mean for kidney patients?

Looking at kidney cells in the urine, which is completely non-invasive, could help to increase understanding of how rare diseases affect the kidneys. By identifying new treatments for further research that can reverse these effects, this could lead to new treatments for rare kidney disease in the future.

Professor John Sayer added: “This research would not have been possible without the ongoing support of patients at our clinics. We would like to thank them for making this research possible.”

David Crosby, chief research officer at Kidney Research UK commented:  “This new approach using non-invasive urine samples could help increase our understanding of rare kidney diseases and screen new treatments to help protect the kidneys. We look forward to seeing more research using this approach which we hope can lead to better treatments for rare kidney diseases in the future.”