<i>ELF4</i>基因缺陷的类白塞病样综合征2例报告

ELF4基因缺陷的类白塞病样综合征2例报告

摘要: 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。

Abstract: 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.