Ge Ting, Wang Yizhong, Che Yanran, Xiao Yongmei, Zhang Ting
Department of Gastroenterology, Hepatology, and Nutrition, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, China.
Front Pediatr. 2017 Dec 12;5:267. doi: 10.3389/fped.2017.00267. eCollection 2017.
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare life threatening congenital autoimmune disorder caused by mutations in the forkhead box protein 3 (FOXP3) gene. The main typical clinical manifestations of IPEX are enteropathy, type 1 diabetes mellitus, and skin diseases, which usually appear in the first months of life and cause death without treatment. Here, we report a 6-year-old boy with late-onset IPEX syndrome due to a c.1190G>A (p. R397Q) mutation in exon 11 of the FOXP3 gene. The boy had intractable diarrhea, abdominal pain, recurrent infections, and failure to thrive. However, diabetes and skin diseases were not observed in the patient. The patient was received metronidazole, teicoplanin, fluconazole, mycamine, ceftriaxone, azithromycin, and fecal microbiota transplantation for treating infections, methylprednisolone and infliximab for suspicion of Crohn's disease after admission. Finally, the boy was diagnosed as IPEX syndrome by genetic test and received hematopoietic stem cell transplantation (HSCT). Our findings suggests that IPEX should be considered in cases of late-onset, mild forms, and less typical clinical manifestations to avoid diagnostic delay.
免疫失调、多内分泌腺病、肠病、X连锁（IPEX）综合征是一种罕见的、危及生命的先天性自身免疫性疾病，由叉头框蛋白3（FOXP3）基因突变引起。IPEX的主要典型临床表现为肠病、1型糖尿病和皮肤病，通常在生命的最初几个月出现，未经治疗可导致死亡。在此，我们报告一名6岁男孩，因FOXP3基因第11外显子发生c.1190G>A（p.R397Q）突变而患有迟发性IPEX综合征。该男孩患有顽固性腹泻、腹痛、反复感染和发育不良。然而，患者未观察到糖尿病和皮肤病。患者入院后接受甲硝唑、替考拉宁、氟康唑、米卡芬净、头孢曲松、阿奇霉素治疗感染，以及甲基泼尼松龙和英夫利昔单抗治疗疑似克罗恩病。最后，通过基因检测确诊该男孩为IPEX综合征，并接受了造血干细胞移植（HSCT）。我们的研究结果表明，对于迟发性、轻度形式和不太典型临床表现的病例，应考虑IPEX，以避免诊断延误。
