Funding outcome

Phosphate is a mineral that is crucial for bone development and strength. X-linked hypophosphatemia (XLH) is a rare condition where the kidneys leak phosphate. XLH leads to soft bones in children, called rickets, which slows childhood growth and causes bone deformities. These bone deformities may be severe enough that children need surgery to correct the curves in their legs. Adults with XLH can develop kidney disease and high blood pressure, which can eventually lead to kidney failure. This summer research project will look at some of the complications that can occur in XLH, including surgery and kidney complications. Kidney problems: We will review charts for children with XLH and collect information on their blood pressure and kidney ultrasound data. We would like to understand if kidney problems are developing in childhood and if we should be observing these problems more closely. This would help us understand if kidney doctors should be involved earlier to possibly treat kidney problems in childhood. Surgery problems: We will collect information on children with XLH who needed surgery and children with XLH that didn't. We will then evaluate if the children that needed surgery had blood work that suggests more severe bone problems, including lower phosphate levels, worse signs of rickets, slower growth, and the need for more medication. We will compare these values to the children who didn't need surgery. We would like to have a better understanding of why certain children needed surgery so we can possibly manage their condition in a different way. It is critical to have a better understanding of the complications in XLH because the condition is so rare that many of these questions remain unanswered. The Stollery Children's Hospital has over twenty children with XLH, which is a surprisingly large number and provides us the chance to better understand the rare condition.