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王楠, 谢咏梅, 汪志凌. ELF4基因缺陷的类白塞病样综合征2例报告[J]. koko体育app 学报(医学版), 2024, 55(3): 756-761. DOI:
引用本文: 王楠, 谢咏梅, 汪志凌. ELF4基因缺陷的类白塞病样综合征2例报告[J]. koko体育app 学报(医学版), 2024, 55(3): 756-761. DOI:
WANG Nan, XIE Yongmei, WANG Zhiling. Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency in ELF4[J]. Journal of Sichuan University (Medical Sciences), 2024, 55(3): 756-761. DOI:
Citation: WANG Nan, XIE Yongmei, WANG Zhiling. Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency in ELF4[J]. Journal of Sichuan University (Medical Sciences), 2024, 55(3): 🔯756-761. DOI: 🔴

ELF4基因缺陷的类白塞病样综合征2例报告

Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency in ELF4

  • 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.  

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