Abstract:

ObjectiveTo deepen the understanding of the characteristics of very early onset inflammatory bowel disease (VEO-IBD) , an infant diagnosed as VEO-IBD due to IL-10RA mutation was reported. MethodsAn infant was dianosed as VEO-IBD based on her clinical manifestations and colonoscopy character. The whole exome sequencing (WES) was performed to confirm the gene deficiency, and the patient was treated by umbilical cord blood stem cell transplantation (UCBT).ResultsA 44-day-old, full-term, female infant remained healthy until developing diarrhea(up to 10 to 20 times per day) on postnatal day 8 with recurrent fever and severe malnutrition. The patient's older sister presented the similar manifestations (recurrent fever, diarrhea and thrush) at one month after birth and died of suspected urethral fistula at the age of 5 months. The patient displayed the perianal abscess which progressed to a fistula with the body weight going down to 2.6 kg 4 days after admission to Children's Hospital of Fudan University. Colonoscopy showed hyperplastic lesions in rectum, straight ulcerations and cobblestone-like appearance in sigmoid colon and descending colon. Thalidomide 6 mg, qd and mesalazine 150mg, qd were used to control intestinal inflammation with enteral and parenteral nutrition support. IL-10RA gene deficiency was confirmed by Sanger sequencing, and umbilical cord blood stem cell transplantation was performed. The stem cells were obtained from an unrelated sex-matched and 8/10 HLA allele-matched UCB. Chimerism was 95.7% 12 weeks after transplantation. IL-10RA gene deficiency and malfunction returning to normal were confirmed by Sanger sequencing and western blotting. The patient's formed stool appeared gradually with the body weigh increasing to 5.2 kg. Colonoscopy showed mucosal healing. At 10 months after transplantation, stool calprotectin was normal (72 μg·g-1).ConclusionThe umbilical cord blood stem cell transplantation is a promising treatment for VEO-IBD due to IL-10RA mutation. It is worth to gather more experiences.