Irene Chen

“I was able to see how findings in studies I read in my initial literature review manifest in actual patients, which helped me better understand the management of the disease.”

Complications of X-linked hypophosphatemia, a rare genetic disorder of the bone

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.

To assess kidney complications, we will review medical 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.

For surgery problems, we will collect information on children with XLH who needed surgery and those who 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 need surgery so we can potentially manage their condition differently.

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 20 children with XLH, a surprisingly large number, and provides us with the chance to better understand this rare condition.

Irene Chen was supervised by Chelsey Grimbly and her summer studentship was funded by the Stollery Children’s Hospital Foundation. She is enrolled in the Bachelor of Science program.