患儿1,男,13岁,因"反复口腔溃疡3年,腹痛8个月,肛周溃疡10 d"入院;患儿2,男,3岁,因"反复腹痛、腹泻、发热3月余"入院,两患儿经基因检测发现X连锁的ELF4缺陷("deficiency in ELF4,X-linked",DEX),确诊为ELF4基因缺陷的类白塞病样综合征.患儿1先后予以甲泼尼龙静脉冲击,泼尼龙、美沙拉嗪口服对症治疗.患儿2先后予糖皮质激素联合肠内营养,巯嘌呤口服等治疗.后2例患儿症状缓解出院.
Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency in ELF4
The patient 1,a 13-year-old boy,was admitted due to"recurrent oral ulcers for 3 years,abdominal pain for 8 months,and perianal ulcers for 10 days";The patient 2,a 3-year-old boy,was admitted due to"recurrent abdominal pain,diarrhea,and fever for over 3 months".Genetic testing of both patients revealed"deficiency in ELF4,X-linked"(DEX),and the patients were diagnosed with Behcet's disease-like syndrome due to deficiency in ELF4,accordingly.The patient 1 was successively given intravenous methylprednisolone pulses and oral prednisone and mesalazine for symptomatic treatment.The patient 2 was successively treated with corticosteroids combined with enteral nutrition,as well as oral mercaptopurine.Subsequently,both patients showed improvements in symptoms and were discharged.
ELF4 geneDiseases of immune dysregulationBehecet's diseaseCrohn's disease
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