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H综合征1例

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摘要 H综合征是一种极其罕见的常染色体隐性遗传疾病,累及多系统,并与其他多种疾病重叠,容易误诊漏诊。H综合征治疗的经验很少。有文献报道糖皮质激素对这类患者的治疗有部分有效,其他治疗药物包括非甾体抗炎药、环孢素、甲氨蝶呤、环磷酰胺、6-巯基嘌呤和阿达木单抗,通常治疗无效或部分有效。需要探索更安全有效的治疗方法。
出处 《中华风湿病学杂志》 CAS CSCD 北大核心 2023年第8期556-559,I0002,共5页 Chinese Journal of Rheumatology
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  • 9Molho-Pessach V, Lerer I, Abeliovich D, et al. The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet, 2008, 83(4): 529-534. 被引量:1
  • 10El-Khateeb EA. The H syndrome. Pediatr Dermatol, 2010, 27 ( 1 ): 65-68. 被引量:1

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