本文選題：X-連鎖多內(nèi)分泌腺病腸病　切入點(diǎn)：免疫失調(diào)綜合征　出處：《臨床兒科雜志》2017年08期 　論文類型：期刊論文

【摘要】：目的探討X-連鎖多內(nèi)分泌腺病腸病伴免疫失調(diào)綜合征(IPEX)的臨床表型、治療及預(yù)后。方法回顧分析1例以先天性魚鱗病樣皮膚病變起病的IPEX患兒臨床資料,并復(fù)習(xí)相關(guān)文獻(xiàn)。結(jié)果患兒,男,2個(gè)月11天,因魚鱗樣皮疹伴頭部滲血、雙足滲液就診,合并重癥感染及消化道穿孔,最終死于多器官功能障礙綜合征。住院期間行全基因組外顯子DNA檢測(cè),結(jié)果示FOXP3基因11號(hào)外顯子c.1150GA,p.A384T半合子突變,其母親為攜帶者,父親無異常。結(jié)論早發(fā)頑固性腹瀉、多發(fā)內(nèi)分泌病及生長落后臨床表型的嬰兒需警惕IPEX,小嬰兒出現(xiàn)魚鱗樣皮疹合并嚴(yán)重感染時(shí),亦需排查IPEX,基因測(cè)序有助于確診此病。
[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.
【作者單位】： 深圳市兒童醫(yī)院腎臟免疫科;
【基金】：國家衛(wèi)生部公益性行業(yè)科研專項(xiàng)(No.20140212) 深圳市科技創(chuàng)新項(xiàng)目(No.JCYJ20160429174400950)
【分類號(hào)】：R725.9

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