先天性鱼鳞病样皮肤病变IPEX 1例报告并文献复习

发布时间：2018-03-09 00:11

本文选题：X-连锁多内分泌腺病肠病　切入点：免疫失调综合征　出处：《临床儿科杂志》2017年08期 　论文类型：期刊论文

【摘要】：目的探讨X-连锁多内分泌腺病肠病伴免疫失调综合征(IPEX)的临床表型、治疗及预后。方法回顾分析1例以先天性鱼鳞病样皮肤病变起病的IPEX患儿临床资料,并复习相关文献。结果患儿,男,2个月11天,因鱼鳞样皮疹伴头部渗血、双足渗液就诊,合并重症感染及消化道穿孔,最终死于多器官功能障碍综合征。住院期间行全基因组外显子DNA检测,结果示FOXP3基因11号外显子c.1150GA,p.A384T半合子突变,其母亲为携带者,父亲无异常。结论早发顽固性腹泻、多发内分泌病及生长落后临床表型的婴儿需警惕IPEX,小婴儿出现鱼鳞样皮疹合并严重感染时,亦需排查IPEX,基因测序有助于确诊此病。
[Abstract]:Objective to investigate the clinical phenotype, treatment and prognosis of X- linked polyendocrine adenopathy with immune maladjustment syndrome (IPEXs). Methods A case of IPEX with congenital ichthyosis was retrospectively analyzed. Results the children, male, 2 months and 11 days, were treated for fish scalelike rash with hemoperfusion of the head, bipedal exudate, severe infection and perforation of digestive tract. Finally died of multiple organ dysfunction syndrome. The whole genome exon DNA was detected during hospitalization. The results showed that exon 11 of FOXP3 gene had a mutation in exon 11, the mother was a carrier, and the father was not abnormal. Conclusion early onset of intractable diarrhea, The infants with multiple endocrine diseases and clinical phenotypes of growth retardation should be on guard against IPEXs. When small infants have fish scale rash and severe infection, IPEXs should also be checked. Gene sequencing is helpful for the diagnosis of IPEXs.
【作者单位】：深圳市儿童医院肾脏免疫科;
【基金】：国家卫生部公益性行业科研专项(No.20140212) 深圳市科技创新项目(No.JCYJ20160429174400950)
【分类号】：R725.9

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