CARD14变异相关皮肤病的分子机制与诊治进展

doi:10.12372/jcp.2026.25e1600

摘要/Abstract

摘要：

近年来，随着分子生物学和遗传学研究的深入，CARD14基因已被证实与多种疾病密切相关。患者多在婴儿期或儿童早期发病，严重影响生存质量。由于该组疾病临床异质性大，治疗困难，早期识别与个性化干预具有重要临床意义。本文系统阐述CARD14基因变异相关皮肤病的分子机制、临床表型谱及靶向治疗的最新进展，旨在为该类疾病的精准诊治提供理论依据和临床参考。

关键词: CARD14, 分子机制, 儿童

Abstract:

In recent years, with advances in molecular biology and genetics, the CARD14 gene has been confirmed to be closely related to a variety of diseases. Patients typically develop symptoms shortly after birth, which severely impacts their health and quality of life. Due to the large clinical heterogeneity of this group of diseases and the difficulty in treatment, early identification and personalized intervention have significant clinical significance. This article systematically expounds the molecular mechanism, clinical phenotype spectrum and the latest progress of targeted therapy of CARD14-related skin diseases, aiming to provide theoretical basis and clinical reference for the precise diagnosis and treatment of such diseases.

Key words: CARD14, molecular mechanism, child

中图分类号:

赵欣荣, 徐子刚. CARD14变异相关皮肤病的分子机制与诊治进展[J]. 临床儿科杂志, 2026, 44(5): 399-404.

ZHAO Xinrong, XU Zigang. Molecular mechanisms, diagnosis, and treatment of skin disorders associated with CARD14 mutations[J]. Journal of Clinical Pediatrics, 2026, 44(5): 399-404.

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