半乳糖血症的疾病谱系：从病理生理机制到分型精准管理
Galactosemia: from Pathophysiological Mechanisms to Precision Management Based on Clinical Spectrum
陈瑶 1章印红 2田云粉3
作者信息
- 1. 650032 云南省昆明市，云南省第一人民医院 昆明理工大学附属医院儿科;650500 云南省昆明市，昆明理工大学医学部
- 2. 650032 云南省昆明市，云南省第一人民医院 昆明理工大学附属医院医学遗传科
- 3. 650032 云南省昆明市，云南省第一人民医院 昆明理工大学附属医院儿科
- 折叠
摘要
半乳糖血症是由半乳糖代谢酶缺陷引起的常染色体隐性遗传病，目前研究已揭示了内源性半乳糖的持续合成是其远期神经认知与生殖并发症的核心因素。基于该病“毒性代谢物累积与 UDP- 半乳糖耗竭”的双重病理机制与高度异质性的疾病谱系，本领域逐渐形成一个以精准诊断为核心的动态“分层管理金字塔”模型。该模型强调所有高危患儿均需从“救命”基座起步，随后经精准诊断被分流至三条不同的长期管理路径：需终身“优化”预后的重症路径、以“防残”为核心的可放宽管理路径以及无需特殊干预的良性路径。该文旨在综述通过精准分型后的动态长期管理以避免治疗不足或过度，优化医疗资源配置，以期推动该病的个体化治疗方案与未来靶向药物研发从单纯的对症支持转向疾病修正治疗。
Abstract
Galactosemia is an autosomal recessive disorder caused by a deficiency in galactose-metabolizing enzymes. Current research has revealed that the sustained synthesis of endogenous galactose is a key factor in its long-term neurocognitive and reproductive complications. Given the disease's dual pathological mechanism of "accumulation of toxic metabolites and uridine diphosphate-galactose (UDP-Gal) depletion" and its highly heterogeneous clinical spectrum, the field has gradually developed a dynamic "tiered management pyramid" model centered on precise diagnosis. This model emphasizes that all high-risk infants must begin at the "life-saving" foundation and, following precise diagnosis, be stratified into three distinct long-term management pathways: a high-risk pathway requiring lifelong "optimization" of prognosis; an intermediate pathway centered on "disability prevention"; and a low-risk pathway requiring no special intervention. This review aims to summarize dynamic long-term management following precise stratification to avoid undertreatment or overtreatment, optimize the allocation of medical resources, and promote a shift in individualized treatment strategies and future targeted drug development for this disease from purely symptomatic and supportive care toward disease-modifying therapy.关键词
半乳糖血症/病理生理/疾病谱系/分层管理/精准医学Key words
Galactosemias/Pathophysiology/Disease spectrum/Stratified management/Precision medicine引用本文复制引用
陈瑶,章印红,田云粉.半乳糖血症的疾病谱系：从病理生理机制到分型精准管理[EB/OL].(2026-09-04)[2026-09-05].https://chinaxiv.org/abs/202609.00034.学科分类
R3
