中国循证儿科杂志2016，Vol.11Issue(3)：171-176,6.DOI:10.3969/j.issn.1673-5501.2016.03.003
脐血干细胞移植治疗白介素10受体A基因突变导致的极早发型炎症性肠病1例病例报告并文献复习
Umbilical cord blood stem cell transplantation treatment for very early onset inflammatory bowel disease due to IL-10RA mutation: A case report and literature review
摘要
Abstract
Objective To 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.Methods An infant was dianosed as VEOIBD 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).Results A 44-dayold,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 allelematched 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).Conclusion The 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.关键词
炎症性肠病/极早发型/全外显子测序/白介素10受体A基因/脐血/干细胞移植Key words
Inflammatory bowel disease/Very early onset/Whole exome sequencing/IL-10RA gene/Umbilical cord blood/Stem cell transplantation引用本文复制引用
彭凯玥,钱晓文,吴冰冰,黄志恒,芦军萍,翟晓文,王慧君,郑翠芳,黄瑛..脐血干细胞移植治疗白介素10受体A基因突变导致的极早发型炎症性肠病1例病例报告并文献复习[J].中国循证儿科杂志,2016,11(3):171-176,6.基金项目
国家自然科学基金:81300291 （）
