成年人低酸呈现与反复的急性关节疼痛
Endocrinology, diabetes & metabolism case reports
|January 27, 2025
概括
成年人的低酸性 (HPP) 可能仅表现为关节疼痛,模仿关节炎. 早期诊断和用asfotase alfa的酶替代疗法可以有效地管理症状,即使没有典型的骨问题.
科学领域:
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
- 类风湿病学 类风湿病学
背景情况:
- 低酸盐症 (HPP) 是一种罕见的遗传疾病,由ALPL基因的变异引起,导致缺陷组织非特异性酸酶 (ALP) 活性.
- HPP通常表现为骨异常,但成人表现可能不典型,类似于炎症性关节炎.
- 由于ALP活性较低而导致的高酸盐水平有助于HPP的关节症状.
研究的目的:
- 突出成人HPP的诊断挑战主要呈现为关节痛.
- 报告通过基因检测和生物化学标记物诊断的成年HPP病例.
- 为了证明酶替代疗法在管理与HPP相关的关节疼痛方面的有效性.
主要方法:
- 一个22岁的男性的临床表现,经常出现关节疼痛.
- 生物化学分析包括血清ALP,尿液甲胺和血无机酸盐.
- 对患者和家长进行ALPL基因变异的基因检测.
- 对阿斯酶α治疗的治疗反应的评估.
主要成果:
- 患者的血清ALP水平较低,尿酸甲胺和血无机酸盐的含量较高.
- 基因分析证实了ALPL基因中的复合异构性致病变体.
- 在一年的随访期内,阿斯酸阿尔法治疗导致了关节痛发作的不存在.
结论:
- 成年HPP可以以关节痛作为主要或唯一的症状,而没有明显的骨病.
- 即使没有经典的骨表现,迅速诊断HPP至关重要.
- 酶替代疗法与阿斯酶阿尔法显示了减轻与成人HPP相关的关节疼痛的承诺.
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