三磷酸腺苷结合盒转运蛋白A3（ATP binding cassette transporter A3,ABCA3）是Ⅱ型肺泡细胞中磷脂代谢的关键蛋白，参与表面活性物质的合成。早期研究发现ABCA3基因变异可导致儿童间质性肺疾病（childhood interstitial lung disease，chILD），但发病机制不明。近年来通过对ABCA3蛋白结构的解析和功能研究，对于ABCA3参与磷脂代谢的机制有了新的认识，并启发了针对ABCA3基因变异的小分子药物的研发。该文就ABCA3蛋白参与的磷脂代谢及其相关肺疾病的发病机制、基因型-表型联系、治疗的前沿进展进行综述，提出目前亟待解决的一些问题，为进一步实现ABCA3变异的精准治疗奠定基础。
ATP binding cassette transporter A3（ABCA3）is a critical protein involved in phospholipid metabolism in typeⅡ alveolar cells，participating in the synthesis of pulmonary surfactant.Early studies have found that mutations in ABCA3 gene can lead to childhood interstitial lung disease（chILD），but the underlying mechanisms remain unclear.Recent elucidation of the ABCA3 structure，coupled with functional inquiries into the protein，has engendered fresh insights into the intricate mechanisms governing phospholipid metabolism orchestrated by ABCA3，inspiring the development of small molecule drugs targeting ABCA3 gene mutations.This article provides a comprehensive review of the involvement of ABCA3 in phospholipid metabolism，the pathogenic mechanisms of related lung diseases，the genotype-phenotype correlations，and the forefront advances in treatment.Additionally，it underscores lingering unresolved queries，aiming to provide a platform for the future refinement of precision treatments for ABCA3 mutations.
黄以琛,吕秋迟,姚瑶. ABCA3参与的磷脂代谢在其相关肺疾病中的研究进展[J]. 国际儿科学杂志,2024,51(09)：586-589.
DOI:10.3760/cma.j.issn.1673-4408.2024.09.003版权归中华医学会所有。
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