[两例白塞氏病样综合征伴有 ELF4 基因缺陷]。

Q3 Medicine 四川大学学报(医学版) Pub Date : 2024-05-20 DOI:10.12182/20240560606

Nan Wang, Yongmei Xie, Zhiling Wang

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引用次数: 0

摘要

患者 1 是一名 13 岁男孩，因 "反复口腔溃疡 3 年，腹痛 8 个月，肛周溃疡 10 天 "入院；患者 2 是一名 3 岁男孩，因 "反复腹痛、腹泻和发烧 3 个多月 "入院。两名患者的基因检测均显示 "ELF4 缺乏，X 连锁"（DEX），因此被诊断为因 ELF4 缺乏而导致的白塞氏病样综合征。患者 1 先后接受了静脉注射甲基强的松龙脉冲、口服强的松和美沙拉嗪的对症治疗。患者 2 则先后接受了皮质类固醇联合肠内营养以及口服巯嘌呤的治疗。随后，两名患者的症状均有所改善并出院。

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[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.

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来源期刊

四川大学学报(医学版) Biochemistry, Genetics and Molecular Biology-Molecular Biology

CiteScore

0.70

自引率

0.00%

发文量

8695

期刊介绍： "Journal of Sichuan University (Medical Edition)" is a comprehensive medical academic journal sponsored by Sichuan University, a higher education institution directly under the Ministry of Education of the People's Republic of China. It was founded in 1959 and was originally named "Journal of Sichuan Medical College". In 1986, it was renamed "Journal of West China University of Medical Sciences". In 2003, it was renamed "Journal of Sichuan University (Medical Edition)" (bimonthly). "Journal of Sichuan University (Medical Edition)" is a Chinese core journal and a Chinese authoritative academic journal (RCCSE). It is included in the retrieval systems such as China Science and Technology Papers and Citation Database (CSTPCD), China Science Citation Database (CSCD) (core version), Peking University Library's "Overview of Chinese Core Journals", the U.S. "Index Medica" (IM/Medline), the U.S. "PubMed Central" (PMC), the U.S. "Biological Abstracts" (BA), the U.S. "Chemical Abstracts" (CA), the U.S. EBSCO, the Netherlands "Abstracts and Citation Database" (Scopus), the Japan Science and Technology Agency Database (JST), the Russian "Abstract Magazine", the Chinese Biomedical Literature CD-ROM Database (CBMdisc), the Chinese Biomedical Periodical Literature Database (CMCC), the China Academic Journal Network Full-text Database (CNKI), the Chinese Academic Journal (CD-ROM Edition), and the Wanfang Data-Digital Journal Group.