Management

There is no cure for Congenital nephrotic syndrome or Pierson syndrome due to biallelic LAMB2mutations. Kidney failure ensues and renal replacement therapy is required.

The nephrotic syndrome is resistant to steroids, but proteinuria responds to ACE inhibitors. If it behaves like Alport syndrome then the proteinuria will also respond to SGLT2 inhibitors.

There is only symptomatic treatment for the ocular and muscle manifestations.

Preimplantation genetic diagnosis is possible where the genetic mutations are known, that in combination with IVF, can ensure that the couple have a subsequent baby without this condition.