Congratulations to UCD School of Medicine’s Professor Billy Bourke and all the team involved in their recently published research, Reversal of Intestinal Failure With Teduglutide in PERCC-Associated Enteropathy: A Case Report
The intestinal rehabilitation team at CHI Crumlin recently identified a novel gene mutation present in a child with rare congenital diarrhoea and intestinal failure necessitating long-term home parenteral nutrition (HPN) for survival.
With collaborators, the team recognised that the gene affected (PERCC1) controlled the embryonic development of enteroendocrine cells in the gastrointestinal tract. Their index patient, a teenager who suffered a number of life-threatening complications from HPN treatment, was shown not to be able to produce any of the measured hormones that enteroendocrine cells produce.
The team theorised that the absence of one hormone in particular, GLP-2, was likely to play a dominant role in the intestinal failure phenotype. An analogue of GLP-2, teduglutide, is commercially available and used successfully in a small number of children and adults with intestinal failure due to surgical short bowel syndrome. Teduglutide was approved for treatment of their patient with PERCC1 mutation and resulted in a dramatic improvement of his diarrhoea, intestinal absorption, height and weight. The patient was able to almost immediately discontinue HPN.
Subsequently, two other patients with the same mutations have been identified in Ireland and new cases are coming to light all the time internationally. PERCC1- related congenital diarrhoea and intestinal failure is now a reversible condition with treatment anticipated to effect full enteral rehabilitation with consequent major implications for the quality of life and survival of these children.