四个月大的婴儿患有慢性颗粒状细胞病和侵袭性阿斯伯吉洛症,骨受损
Héctor Gómez-Tello1, Estefany Graciela Mamani-Velásquez2, Ana Karen Gómez-Gutiérrez3
1Departamento de Alergias, Hospital para el Niño Poblano, Puebla, México.
Biomedica : revista del Instituto Nacional de Salud
|January 21, 2025
概括
侵袭性阿斯伯吉洛症在患有慢性粒状瘤疾病 (CGD) 的婴儿中很少见. 这一案例凸显了在患有CGD的婴儿中侵袭性阿斯伯吉洛症的积极治疗需求,即使在具有挑战性的环境中.
科学领域:
- 免疫学 免疫学 免疫学
- 儿科 儿科 儿科
- 传染性疾病 传染性疾病
背景情况:
- 慢性颗粒状体病 (CGD) 是一种与高发性侵袭性阿斯伯吉洛症相关的免疫系统的先天性错误.
- 侵入性阿斯伯吉洛症通常会影响患有CGD的青少年,在1岁之前很少发生.
研究的目的:
- 报告一个罕见的侵袭性阿斯伯吉洛症病例,该病例发生在患有慢性颗粒状细胞疾病的四个月大婴儿身上.
- 强调患有CGD的婴儿具有侵入性阿斯珀吉洛斯病的潜力,以及需要积极管理的需要.
主要方法:
- 一个四个月大的男婴被诊断出患有慢性颗粒状细胞疾病和侵入性阿斯伯吉洛症的病例报告.
- 诊断程序包括计算机断层扫描,Aspergillus fumigatus的隔离,二罗达胺测试和CYBB基因测序.
- 治疗涉及广泛的抗生素和沃里可纳.
主要成果:
- 婴儿出现了腹,肺炎和肺结节,最初怀疑是虐待儿童.
- 在腹中发现了Aspergillus fumigatus,证实了侵袭性阿斯伯吉洛症.
- 该患者患有CYBB基因突变 (c.80_83del/Y),母亲是载体.
- 尽管接受了治疗,但婴儿经历了耐火侵入性阿斯伯吉洛症,并在12个月大时去世.
结论:
- 环境因素对CGD患者的传染病剂暴露有显著的影响.
- 侵入性阿斯伯吉洛症可以在患有CGD的婴儿中表现出来,需要迅速,积极的治疗.
- 这一案例强调了早期诊断和干预侵袭性阿斯伯吉洛症在患有CGD的幼儿中的重要性.
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