黑酸尿症临床诊疗研究进展

谭静, 高琳, 桑成晨, 张学兰

武警医学 ›› 2025, Vol. 36 ›› Issue (1) : 73-77.

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武警医学 ›› 2025, Vol. 36 ›› Issue (1) : 73-77.
综述 

黑酸尿症临床诊疗研究进展

  • 谭静, 高琳, 桑成晨, 张学兰
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文章历史 +

摘要

黑酸尿症(AKU)又名褐黄病,是一种罕见的单基因常染色体隐性遗传病,主要特征包括尿液变黑,部分皮肤、结缔组织呈现褐黄色及一种痛苦且严重的骨关节病。AKU虽进展缓慢,但是终生性疾病,严重影响生活质量。诊断主要依赖于临床表现、尿液分析和基因检测。治疗方面,目前尚无根治方法,主要以对症治疗和生活方式干预为主。本文对AKU近年来的临床诊疗进展进行综述,为临床医师诊治提供借鉴。

关键词

黑酸尿症 / 罕见病 / 诊断 / 研究进展

引用本文

导出引用
谭静, 高琳, 桑成晨, 张学兰. 黑酸尿症临床诊疗研究进展[J]. 武警医学. 2025, 36(1): 73-77
中图分类号: R596.2   

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