Shining light on nephrotic syndrome
Genetic Disorders Nephrotic Syndrome, a rare condition that limits the functioning of the kidneys, affects around 10,000 people in the UK. Few treatments are available, especially for those with the genetic form of the disease, which is why the need for a cure is so vital.
Around 20 per cent of children with the condition have a more severe form of the Nepthrotic Syndrome caused by an inherited faulty gene. “The genetic mutation affects a very specific cell type called the podocyte that controls the filtration in the kidney,” explains Professor Moin Saleem, Professor of Paediatric Renal Medicine at Bristol Royal Hospital for Children.
Like many conditions that affect the internal organs, there is no immediate physical presentation of Nephrotic Syndrme, which makes it hard to spot. “The most common symptom will be when parents notice a child is getting puffy, which is a symptom called oedema,” says Saleem. “This can be mistaken for an allergic reaction of some kind, so it’s sometimes misdiagnosed.”
A simple urine test, followed by a blood test is all that’s needed to diagnose Nephrotic Syndrome, but treating it poses numerous challenges. “There are still a lot of things we don’t understand about the condition,” continues Saleem. “Some cases can be treated with steroids and immunosuppressive drugs, but there are lot of serious side effects. If it’s a genetic cause, we currently don’t have a direct treatment.”
Children with genetic forms of the condition will require intensive care and monitoring, including regular dialysis to clean the blood as well as additional proteins administered intravenously. Whilst some treatment can be given at home, more often than not, it will need to be done in hospital. With just 12 kidney centres around the country, families can find themselves travelling extensively to get the care they need. Many of these children will ultimately need kidney transplants. Whilst 90 per cent of transplants are extremely effective, even the best match is likely to last no more than 20 years, so a patient could need two to three kidney transplants in their lifetime.
However, Saleem and his team at Bristol Royal Hospital for Children are leading the way to finding a cure. “There are some really good gene therapy technologies out there for conditions such as cystic fibrosis,” says Saleem. “We’re working on applying some of those technologies to the kidney, and we’ve made some good progress. We’re involving patients extensively in every step of the research and are hopeful that they’ll be new drugs available within the next five years. Within the next 10 years there may even be gene therapy available; that’s very realistic.”
Nephrotic Syndrome Trust (NeST)
The Nephrotic Syndrome Trust (NeST) was set up in 2005 by trustee David Yearsley whose son James suffers from the disease. Nephrotic Syndrome affects around 10,000 people in the UK.
Its main aims are to:
- Raise awareness of the disease
- Raise funds for research to find a cure
- Offer a website resource and forum for sufferers and their carers who often feel isolated