Researchers discover promising treatment for the most common cause of inherited nephrotic syndrome – Kidney Research UK

Unravelling the genetic roots of nephrotic syndrome

The most common genetic cause of NS is a change in the gene responsible for making podocin – a crucial protein found in podocytes (specialised cells in the kidneys that are responsible for filtering blood). When a cell produces a protein, it must then fold it into the appropriate shape. This genetic change means that podocin doesn’t fold properly. Although the protein should still work, the folding problem stops it from being transported to the outer covering of the cell, called the cell membrane, where it needs to be to perform its job. Instead, the misfolded podocin stays inside the cell where it cannot function. 

Patients with this genetic change develop NS at an early age; while current treatments aim to manage symptoms, there is no permanent cure. As the illness progresses, dialysis or kidney transplantation may be required.

“There are more than 30 known mutations in podocin that can cause steroid-resistant nephrotic syndrome. The R138Q mutation is the most common and accounts for nearly 60% of cases. Patients with this mutation develop symptoms of NS early in childhood and rapidly progress to end-stage renal disease.” Professor Moin saleem