Although mutations in several genes may cause HSCR, majority of cases occur in a sporadic manner
Hirschsprung's disease (HSCR) is a developmental disorder caused by the failure of enteric neural crest-derived cells (ENCC) to colonize the entire gut, leading to absence of neurons from variable lengths of the colon. Hirschsprung disease usually start in very young children, but may also occur later. The symptoms involve constipation, vomiting, abdominal pain or swelling, diarrhea, poor feeding, malnutrition, jaundice and slow growth. There are two main types of Hirschsprung disease, known as short-segment disease and long-segment disease, defined by the region of the intestine lacking nerve cells (aganglionic segments). Although mutations in several genes may cause HSCR, majority of cases occur in a sporadic manner. The treatment involves surgical removing the aganglionic intestinal segment. Pre- or post-surgery enterocolitis is common and associated with adverse outcomes.
At Pediatric Immunity and Healthcare we have been developing immunological and genetic biomarkers that help with precision diagnosis months ahead of traditional procedures.