Clinical outcome of infantile‐onset inflammatory bowel disease in 102 patients with interleukin‐10 signalling deficiency

Abstract

Background: Infantile-onset inflammatory bowel disease can be caused by defects in interleukin-10 signalling. The natural history and clinical outcomes of allogeneic haematopoietic stem cell transplantation, medical treatment and surgery have not been thoroughly described.Aims: This study evaluates disease progression and clinical outcome in patients with interleukin-10 signalling deficiency.Methods: One hundred and nine patients with interleukin-10 signalling deficiency were retrospectively reviewed from a single tertiary centre. The Kaplan-Meier method was applied to calculate probabilities of survival and interval between transplant and stoma closure.Results: One hundred and nine patients were reviewed, and 102 patients were included in the survival analysis. One hundred and eight patients were identified with IL10RA mutations, and one patient harboured IL10RB mutation. Seventy-three patients received haematopoietic stem cell transplantation. The overall survival after transplantation was 64.2% (95% confidence interval, 52.8 to 75.6), and without transplantation, it was 47.5% (95% confidence interval, 14.8 to 80.2, P = 0.47). The median timeframe between transplant and stoma closure was 19.6 months. The probability of survival was significantly lower in patients with perforation (P < 0.001), ileus (P = 0.038) and without thalidomide treatment (P < 0.001) among patients who did not receive haematopoietic stem cell transplantation. The survival probability was not associated with timeframe between transplant and onset, graft source and genotypes. Conclusions:The survival probability was not significantly different between patients with transplantation and the non-transplanted patients.

Risk factors for stoma-and-incision-related complications in children with very early-onset inflammatory bowel disease: A prospective cohort study

“…[31][32][33] Extensive colectomy and ileal pouch-anal anastomosis are not recommended for primary VEO-IBD surgery according to the existing literature. [34][35][36] This study also showed that more than half of the children underwent re-operation. Besides annuloplasty and enterostomy closure, there were critical conditions such as intestinal obstruction and enterostomy prolapse for re-operation reasons.…”

“…Enterostomy temporarily disallowed the distal intestinal segment, allowing the intestinal mucosa to rest and heal, reducing the risk of infection, and improving the tolerance of enteral nutrition. [34][35] The incidence of ostomy-related complications is high, with more than half of children having ostomyrelated complications. According to a number of previous studies, complications in children with enterostomy are between 26.7%-72%.…”

Long-term outcomes after enterostomy for very early-onset inflammatory bowel disease with interleukin-10 signaling deficiency

“…The timely management of VEO-IBD with perianal or severe intestinal lesions is important owing to the possible adverse effects on growth, development, and quality of life [12]. For these patients, a combination of medical and surgical treatment was often required to control diseases [9,13].…”

“…The reason was that the patients in emergency enterostomy group had severe illness and complications. Therefore, the patients in our center received medical and surgical intervention when necessary, regardless of whether they were referred for transplantation [12].…”