组织工程与重建外科杂志

组织工程与重建外科杂志 ›› 2025, Vol. 21 ›› Issue (3): 305-.

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Proteus综合征的研究及诊疗新进展

  

  • 出版日期:2025-06-02 发布日期:2025-07-01

 Advances in the research，diagnosis and treatment of Proteus syndromeindenta tion and adhesion

  • Online:2025-06-02 Published:2025-07-01

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摘要： Proteus综合征是AKT1（c.49G→A，p.Glu17Lys）体细胞激活性突变引起的局部增殖性疾病，最常见的表现为脑 回状结缔组织痣、外生骨疣及肺囊性变，患者寿命通常较短。临床表现具有很高的异质性，累及组织多，诊断与治疗困 难。本文系统回顾了Proteus综合征的病因、动物模型、临床表现、诊断与治疗，以期为该罕见病的精准诊疗提供支持。

关键词: 海神综合征, &emsp, 激活性突变, &emsp, 精准医学

Abstract: Proteus syndrome is a localized proliferative disorder caused by a somatic activating mutation in AKT1（ c.49G →A， p.Glu17Lys）. The most common manifestations include cerebriform connective tissue nevi， exostoses， and pulmonary cystic changes， often resulting in a shortened lifespan for affected individuals. The clinical presentation is highly heterogeneous， involving multiple tissues， which complicates diagnosis and treatment. This paper systematically reviewed the etiology， animal models， clinical manifestations， diagnosis， and treatment of Proteus syndrome， aiming to support precise medical interventions for this rare disease.

Key words: Proteus syndrome, &emsp, Activating mutation, &emsp, Precision medicine