1. Oct 15, 2020

G6PC3 deficiency‐associated IBD successfully treated with bone marrow transplant

G6PC3 deficiency, a rare genetic condition which causes inflammatory bowel disease (IBD), was successfully treated by bone marrow transplant, according to a study in Journal of Leukocyte Biology.

In the study, 4 children with G6PC3 deficiency associated IBD were monitored for neutrophil function and clinical response to granulocyte colony‐stimulating factor (G‐CSF) and hematopoietic stem cell transplantation (HSCT). IBD symptoms progressed after G‐CSF treatment.

In vitro studies on the blood of participants found that neutrophils had higher levels of activation markers excessive IL‐8 and reactive oxygen species, and increased apoptosis and secondary necrosis. HSCT resulted in normalization of neutrophil function and remission of gastrointestinal symptoms.

The authors concluded that “neutrophils in G6PC3 deficiency release pro‐inflammatory mediators when exposed to gut bacteria, associated with intestinal inflammation, despite treatment with G‐CSF,” and HSCT is an effective treatment option for patients with G6PC3 deficiency‐associated IBD refractory to immune suppressants.

“Although IBD caused by G6PC3 deficiency is extremely rare and difficult to diagnose, it's thrilling that we have found a way to successfully treat it in these four children. It's rare to say a cure has been found for any disease, but I think in this case, it's perfectly accurate to say this. Our paper has also shown beyond any doubt that IBD G6PC3 deficiency can cause IBD,” said Dr Peter Arkwright, senior lecturer at the University of Manchester, and the study lead, in a statement.

Reference
Goenka A, Doherty JA, Al-Farsi T, et al. Neutrophil dysfunction triggers inflammatory bowel disease in G6PC3 deficiency. J Leukoc Biol. 2020; https://doi.org/10.1002/JLB.5AB1219-699RR