案例报告:Fabry病与儿科患者的系统性红斑狼重叠
Yaqing Liu1, Juanjuan Luo2, Nengjing Wu1
1Department of Pediatrics, First Affiliated Hospital, Gannan Medical University, Ganzhou, JiangXi, China.
Frontiers in immunology
|September 17, 2025
概括
本案例报告详细介绍了一名患有法布里病 (FD) 和全身性红斑狼 (SLE) 并存的年轻男孩. 通过活检和遗传检测进行早期诊断对于管理这种罕见的重叠综合征至关重要.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學.
- 遗传学 遗传学 是一个
- 类风湿病学 类风湿病学
- 罕见疾病 罕见疾病
背景情况:
- 费布里病 (FD) 是一种X链 lysosomal 储存障碍,由于α-galactosidase 缺乏.
- 系统性红斑狼 (SLE) 是一种慢性自身免疫性疾病,影响多个器官,主要是女性.
- 尽管有重叠的器官参与,但FD和SLE的共存很少见.
研究的目的:
- 报告最年轻的患者被诊断患有同时存在的法布里病和系统性红斑狼.
- 突出活检和基因检测在这种罕见疾病的诊断作用.
- 讨论治疗策略和酶替代疗法的影响.
主要方法:
- 一个12岁的中国男孩被诊断患有SLE的案例介绍.
- 用光和电子显微镜进行脏活检.
- 白细胞α-galactosidase活性测定和GLA基因突变分析.
- 治疗包括免疫抑制剂,ACE抑制剂,ARB和酶替代疗法.
主要成果:
- 患者出现了SLE症状和特征性病理.
- 电子显微镜揭示了细胞中的性髓样体,这表明FD.
- 证实FD具有较低的α-galactosidase活性和一种新的GLA基因突变 (c.G735C).
- 在酶替代疗法后,治疗带来了部分改善,蛋白尿稳定.
结论:
- 脏活检和遗传检测对于诊断SLE患者,特别是男性共存的FD至关重要.
- 酶替代疗法可能有助于管理FD和SLE同时存在的患者的蛋白尿症.
- 这一案例强调了在复杂的自身免疫表现中考虑罕见遗传疾病的重要性.
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