PDF(Pubmed)
Abstract：
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked recessive immunodeficiency caused by mutations in the forkhead box protein 3 (FOXP3) gene. IPEX is characterized by the onset of intractable diarrhea, type 1 diabetes mellitus (T1DM), and eczema in the early stages of life. The typical clinic triad for IPEX is not always seen. Here, we report a 15-year-old male patient with atypical IPEX syndrome complicated with severe eosinophilic gastritis (EG) and pyloric stenosis. The patient had noticeable eczema during the first year of life and had a history of food allergies. At the age of 3 years, the patient was diagnosed with EG, Helicobacter pylori (HP) infection, pyloric stenosis with recurrent vomiting, and failure to thrive. The patient did not respond to long-term symptomatic treatments in the following years, including methylprednisolone, proton pump inhibitors (PPI), L-glutamine and sodium gualenate granules, anti-HP therapy, and balloon dilation. At the age of 12 years, the patient received surgical interventions, including a laparoscopic jejunostomy feeding tube placement, gastrojejunal anastomosis bypass, and jejunal-jejunal end-to-side anastomosis. Intractable diarrhea and T1DM were not present in the patient. At the age of 14 years, the patient was diagnosed with IPEX syndrome due to a c.748-750del (p.Lys250del) mutation in the leucine zipper domain of the FOXP3 protein. The patient underwent matched sibling peripheral blood hematopoietic stem cell transplantation (HSCT) and showed good evolution after 3 months of HSCT. In summary, this case report provides information of unusual gastrointestinal findings in IPEX syndrome and highlights the need for increased awareness and early diagnosis of IPEX syndrome, which is vital for improving the patient\'s outcome.
摘要：
免疫失调,多内分泌病,肠病,X连锁（IPEX）综合征是一种罕见的X连锁隐性免疫缺陷，由叉头框蛋白3（FOXP3）基因突变引起。IPEX的特点是顽固性腹泻的发作，1型糖尿病（T1DM），和早期的湿疹。IPEX的典型临床三合会并不总是可见。这里,我们报道了1例15岁男性患者,患有非典型IPEX综合征,并发重度嗜酸性粒细胞性胃炎(EG)和幽门狭窄.患者在生命的第一年有明显的湿疹，并有食物过敏史。在3岁的时候，患者被诊断为EG，幽门螺杆菌(HP)感染,幽门狭窄伴反复呕吐，未能茁壮成长。在接下来的几年中，患者对长期对症治疗没有反应，包括甲基强的松龙,质子泵抑制剂（PPI），L-谷氨酰胺和瓜伦酸钠颗粒，抗HP治疗,和气球扩张。在12岁的时候，病人接受了外科手术,包括腹腔镜空肠造口术喂养管的放置，胃空肠吻合术,空肠-空肠端侧吻合术。患者中不存在顽固性腹泻和T1DM。14岁时,该患者因c.748-750del被诊断为IPEX综合征（第Lys250del）在FOXP3蛋白的亮氨酸拉链结构域中的突变。该患者接受了匹配的同胞外周血造血干细胞移植（HSCT），并在HSCT3个月后表现出良好的进化。总之,本病例报告提供了IPEX综合征异常胃肠道发现的信息，并强调需要提高对IPEX综合征的认识和早期诊断，这对于改善患者的预后至关重要。
