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[Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency in ELF4]. / ELF4基因缺陷的类白塞病样综合征2例报告.
Wang, Nan; Xie, Yongmei; Wang, Zhiling.
Afiliación
  • Wang N; ( 610041) Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, China.
  • Xie Y; () ( 610041) Key Laboratory of Birth Defects and Related Diseases of Women and Children of the Ministry of Education, Sichuan University, Chengdu 610041, China.
  • Wang Z; ( 610041) West China College of Clinical Medicine, Sichuan University, Chengdu 610041, China.
Sichuan Da Xue Xue Bao Yi Xue Ban ; 55(3): 756-761, 2024 May 20.
Article en Zh | MEDLINE | ID: mdl-38948265
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Behçet Límite: Adolescent / Child, preschool / Humans / Male Idioma: Zh Revista: Sichuan Da Xue Xue Bao Yi Xue Ban Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: China

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Behçet Límite: Adolescent / Child, preschool / Humans / Male Idioma: Zh Revista: Sichuan Da Xue Xue Bao Yi Xue Ban Año: 2024 Tipo del documento: Article País de afiliación: China Pais de publicación: China