由AGXT基因引起的高氧化尿:一个病例报告
Alessandra Vitorino Naghettini1, Alice Leite Mesquita2, Andrielle Nunes Santos2
1Faculdade de Medicina, Universidade Federal de Goiás, Rua 235 Esq. Com 5ª Avenida, S/N, Setor Universitário, Goiânia, Goiás, CEP 74605-020, Brazil. alessandra_naghettini@ufg.br.
Journal of medical case reports
|January 17, 2026
概括
基因检测在患有1型原发性高氧沙流症的儿童中发现了AGXT基因突变,从而实现了向治疗和家庭查. 早期诊断这种罕见的遗传性病对于有效管理和预防晚期病至关重要.
科学领域:
- 遗传学和基因组学 在
- 腎臟病學 (nephrology) 是一種醫學專業.
- 罕见疾病 罕见疾病
背景情况:
- 初级高氧化尿1型 (PH1) 是一种罕见的遗传性疾病,其特征是过度的氧酸盐生产,导致甲,甲和慢性病.
- 本病例报告的重点是患有确诊的AGXT基因突变的儿科患者,在病史中出现了复发性结石和渐进性损伤.
- 识别特定的AGXT变异对于了解疾病进展和指导PH1.1中的治疗策略至关重要.
研究的目的:
- 详细说明在PH1.1的儿科患者中识别AGXTc.33dup (p.Lys12Glnfs*156) 变异的诊断过程和治疗影响.
- 突出基因检测在PH1的早期诊断和管理中的重要性,特别是在无法解释的瘤或复发性质病的病例中.
- 强调如何识别不响应的基因型可以防止长期的,无效的治疗,并促进及时评估先进疗法.
主要方法:
- 一个9岁男孩的临床病例介绍,他有结石和结石病史.
- 诊断评估包括对高氧化尿和血清氧化酸盐水平的评估,证实PH1.
- 基因分析确定了AGXT c.33dup (p.Lys12Glnfs*156) 变种的同胞性;进行了家族查. 启动了卢马西兰治疗.
主要成果:
- 这名患者被诊断患有1型原发性高氧化尿症,原因是AGXT c.33dup变异的同卵性.
- 患者经历了急性功能衰竭,需要进行干预,但在稳定的功能下实现了部分恢复.
- 两名无症状的兄弟姐妹被确定为异合体携带者,这强调了家庭查的有用性.
结论:
- 1型原发性高氧化尿症存在重大诊断和治疗挑战,特别是在资源有限的环境中.
- 对AGXT变异的早期遗传鉴定提供了关键的预后信息,并指导治疗决策,包括肝移植或RNA干扰治疗的可能性.
- 在患有无法解释的病的儿童中实施早期遗传检测可以带来具有成本效益的诊断,有针对性的治疗,并减少长期医疗负担.
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