Sickle cell disease: which children are at highest risk of kidney failure?

Around one baby in every 1,900 born in the UK has sickle cell disease.¹ Their future is hard to predict. Some have relatively few symptoms, whereas others experience serious problems including repeated attacks of intense pain, infections and, eventually, organ failure. Dr John Gibson, of the University of Cambridge, is looking for a way to identify which children are at risk of kidney disease, so the children can benefit from intensive early treatment that might protect them from kidney failure.

What is the problem and who does it affect?

Over 13,500 people in the UK have sickle cell disease.² Children with sickle cell disease face a lifetime of ill health. They have attacks of intense pain – called crises – and are at risk of life-threatening complications, including organ failure.

Children with the illness are prone to developing kidney disease as they get older. “With kidney disease, one of the most noticeable early problems for families is that the child frequently wets the bed at night, even into teenage years,” says Dr Gibson. “This is inconvenient and distressing. Things like sleep-overs and school trips become difficult, sleep is disrupted, and there’s a constant need to wash or replace beds and bed linen. Effects on quality of life are considerable.”

“When they grow up, children with sickle cell disease are at high risk of developing kidney failure, which is incompatible with any sort of normal life,” says Dr Gibson. “Dialysis can take up to 20 hours a week. Although kidney transplants usually work well, there is a real shortage of donors.”

Treatments are already available that might protect children’s kidneys from damage. However, it’s not possible to predict which children will develop kidney problems. This means that children may not benefit from the treatments that could help them.

What is the project trying to achieve?

“We are hoping to develop a reliable test, which can be used early in a child’s life, to assess their chances of developing kidney disease when they get older,” explains Dr Gibson. “This would be a major advance as it would enable children who are at highest risk to receive treatments that might protect their kidneys from damage. If we are successful in developing the test, our next step would be to set up a clinical trial to find out how effective treatment is.”

The complications of sickle cell disease, including kidney disease, all result from abnormalities in red blood cells. Dr Gibson suspects that certain changes in the walls of red blood cells might contribute significantly to kidney damage, and that these particular abnormalities might be apparent before a child develops kidney disease. He is investigating his suspicions with the help of 200 children who have sickle cell disease.

What are the researchers’ credentials?

Dr Gibson and is working with Professor Clive Ellory, another scientist, and Professor David Rees, a consultant physician. Together they have considerable expertise in how abnormalities in red blood cells contribute to ill health, particularly sickle cell disease. They have an international reputation for this work.

References

1. UK Newborn Screening Programme Centre. Introducing newborn blood spot screening for parents. What is sickle cell disease? http://newbornbloodspot.screening.nhs.uk/public Website accessed 2 November, 2012.