诊断

为诊断 CGD,医务人员会审查您的家族病史和医疗史,并对您进行体检。医务人员可能会要求进行若干项检查来诊断 CGD,包括:

  • 中性粒细胞功能检查。医务人员可能会进行二氢罗丹明 123(DHR)检测或其他检测,以检查您某种白细胞(嗜中性白细胞)的功能状况。医务人员通常使用此项检测来诊断 CGD
  • 基因检测。医务人员可能会要求进行基因检测,以确认是否存在导致慢性肉芽肿病的特定基因变异。
  • 产前检测。如果您已有一个孩子被诊断出患有 CGD,则医务人员可能会进行诊断 CGD 的产前检测。

治疗

治疗慢性肉芽肿病(CGD)的重点是帮助您避免感染和控制病情。治疗方法可能包括:

  • 感染管理。医务人员会采取预防措施,以防感染细菌和真菌。治疗药物可能包括甲氧苄啶和磺胺甲恶唑组合药物(Bactrim、Sulfatrim Pediatric)或伊曲康唑(Sporanox、Tolsura)。如果发生感染,可能还需要使用其他抗生素或抗真菌药物。
  • 干扰素 γ。您偶尔可能需要注射干扰素 γ,以增加免疫系统中细胞的抗感染能力。
  • 干细胞移植。在某些情况下,干细胞移植可以治疗慢性肉芽肿病。是否决定用干细胞移植治疗取决于许多因素,包括预后情况、供体的可获得性和个人偏好。

未来可能的治疗方案

目前正在探索用于治疗 CGD 的基因治疗,不过还需要进一步研究。

研究人员也正在研究修有缺陷的基因,以治疗 CGD

临床试验

探索 Mayo Clinic 的研究 测试新的治疗、干预与检查方法,旨在预防、检测、治疗或控制这种疾病。

在 Mayo Clinic 治疗

May 10, 2023

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  2. Chronic granulomatous disease. Medline Plus. https://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease?_ga=1.168947753.905232672.1468720729. Accessed Feb. 14, 2023.
  3. Chronic granulomatous disease. National Organization for Rare Disorders. https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/?filter=ovr-ds-resources. Accessed Feb. 9, 2023.
  4. Marciano BE, et al. Chronic granulomatous disease: Treatment and prognosis. http://www.uptodate.com/contents/search. Accessed Feb. 9, 2023.
  5. Chronic granulomatous disease (CGD). Merck Manual Professional Version. https://www.merckmanuals.com/professional/immunology-allergic-disorders/immunodeficiency-disorders/chronic-granulomatous-disease-cgd. Accessed Feb. 9, 2023.
  6. Ami TR. Allscripts EPSi. Mayo Clinic. Nov. 23, 2022.
  7. Keller MD, et al. Future of care for patients with chronic granulomatous disease: Gene therapy and targeted molecular medicine. Journal of the Pediatric Infectious Diseases Society. 2018; doi:10.1093/jpids/piy011.
  8. Jeffrey Modell Foundation. https://info4pi.org/. Accessed Feb. 9, 2023.

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