Awardees
 

Award: KRESCENT program partnership with CIHR IHDCYH
Institution: The Hospital for Sick Children
Year: 2019-2022

Study title: Studying why abnormal fats in blood vessel leads to blood clots in the kidneys of children with a rare genetic disease (DGKE deficiency)

Lay Summary
Blood vessels are like roads used to deliver food and oxygen to our body. A thin carpet of cells called endothelium lines the blood vessels. One of their important functions is to help make sure that blood flow is smooth. When a blood vessel is injured, blood flow slows down so a repair can happen. If this is a “good" traffic jam, it is critical to avoid "bad" ones, that is clotting in healthy blood vessels. Dr. Lemaire studies two diseases that both lead to blood clots in the kidneys, causing kidney failure. He will study them together because what is found for one disease can help understand the other.
 
The first disease is called HELLP syndrome. It affects about 1% of all pregnant women. It is a terrible disease because sometimes the mother or the fetus dies. An injury to the placenta causes the clotting problem for the mother. The placenta sends special proteins in the blood of the mother that trigger clotting in the kidney. The only things doctors can do to help is using a machine to clean the mother's blood or deliver the baby. Dr. Lemaire is trying to understand how this protein from the placenta causes these troubles.
 
The second disease is caused by DNA changes (mutations) in a gene called DGKE. Affected children have kidney blood clots after most infections up until age 5. Because of the repeated kidney injuries, the kids develop chronic kidney failure over the next 10 years. Infections can cause the release of the same special proteins made by the placenta in the blood of patients. Researchers try to understand why their blood vessels are “stickier” after an infection to find a way to prevent it. Could we make them feel better by using the same machine used to clean the blood of mothers? A better understanding of how and why these two diseases occur is essential to develop new treatments.