Phenotypic characteristics and clinical manifestations of inflammatory bowel disease in infants and children under 2 years of age in Liaoning Province, China: five of six infants with IL-10R mutations.

Phenotypic characteristics and clinical manifestations of inflammatory bowel disease in infants and children under 2 years of age in Liaoning Province, China: five of six infants with IL-10R mutations. Paediatr Int Child Health. 2019 Feb;39(1):59-64 Authors: Teng X, Xu L, Sun M, Guo J Abstract A retrospective analysis of the phenotypic characteristics, clinical manifestations, investigations and interleukin-10 receptor (IL-10R) status of inflammatory bowel disease (IBD) in infants and children under 2 years of age in Liaoning Province, China between January 2015 and October 2016 is described. Six patients without a family history of IBD were diagnosed with Crohn disease, and IL-10R mutations were detected in five of them. Compound heterozygous patients with IL-10R mutations had severe clinical manifestations, were resistant to standard medication for IBD and had a poor prognosis as haematopoietic stem cell transplantation (HSCT) was not undertaken. Two of these patients died of suspected septicaemia. IBD in infants and children under 2 years of age is life-threatening when patients with IL-10R mutations do not receive allogeneic HSCT. PMID: 30900524 [PubMed - in process]
Source: Paediatrics and international child health - Category: Pediatrics Tags: Paediatr Int Child Health Source Type: research