Genetic disorder may delay diagnosis of IBD in children

INDIANAPOLIS New findings related to an uncommon genetic disorder may impact the diagnosis and treatment of inflammatory bowel disease, the most common chronic gastrointestinal illness in children and teens. Researchers from the United States and Canada have identified a genetic defect not previously known to be a cause of chronic granulomatous disease, an inherited disorder with recurrent bacterial and fungal infections. Some patients also develop gastrointestinal inflammation. CGD, which occurs in 1-in-200,000 patients, is usually diagnosed in childhood.

In addition to providing insight into CGD, a condition in which an enzyme defect prevents white blood cells in the body from killing invading bacteria, the new findings highlight how abnormal white blood cell function can predispose individuals to IBD, and may help provide insight into why IBD develops. Crohn’s disease and ulcerative colitis are the most common forms of IBD.

The research was led by Mary Dinauer of the Herman B Wells Center for Pediatric Research at the Indiana University School of Medicine and Riley Hospital for Children. The new findings are reported in the Oct. 8 print edition of the journal Blood.

“We now know that a genetic defect that selectively affects the production of oxidants inside of white blood cells can cause gastrointestinal symptoms of CGD,” Dinaur said. “Exploring the gene defect’s role in inflammatory bowel disease and immune processes will be a key priority in the future.”