中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (3): 256-260.DOI: 10.19538/j.ek2025030612

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Alström综合征代谢紊乱及分子机制研究进展

  

  1. 上海交通大学医学院附属儿童医院内分泌科，上海  200062
  • 出版日期:2025-03-06 发布日期:2025-04-17
  • 通讯作者: 郭盛，电子信箱：guosheng@shchildren.com.cn

Research progress in metabolic disorders and molecular mechanism of Alström syndrome

  1. Department of Endocrinology and Metabolism，Shanghai Children’s Hospital，School of Medicine，Shanghai Jiao Tong University，Shanghai  200062，China
  • Online:2025-03-06 Published:2025-04-17

摘要： Alström综合征是一种罕见的遗传性代谢疾病和纤毛障碍，由ALMS1基因突变引起。代谢失调是Alström综合征患者的主要临床特征之一，涉及多个重要器官和系统的功能紊乱。该病症状包括视网膜病变、听力丧失、糖尿病、肥胖症等，与纤毛功能异常和ALMS1蛋白的功能损害紧密相关。目前，针对Alström综合征代谢失调的研究主要聚焦于能量代谢、脂肪代谢和糖代谢等方面，但其具体分子机制仍不十分明确。文章综述了Alström综合征代谢紊乱特征及发病机制的相关研究进展，旨在加深对该病相关代谢紊乱的认识，为治疗和预防提供参考。

关键词: Alstr?m综合征, 代谢紊乱, 纤毛障碍, 分子机制

Abstract: Alström syndrome is a rare inherited metabolic disease and ciliary disorder caused by mutations in the ALMS1 gene. One of the principal clinical features of patients with Alström syndrome is metabolic dysregulation， which is involved in the dysfunction of several vital organs and systems. The disease is characterized by a number of symptoms， including retinopathy， hearing loss， diabetes mellitus， and obesity， which are strongly associated with abnormal ciliary function and functional impairment of the ALMS1 protein. Currently， studies on metabolic dysregulation in Alström syndrome have focused on energy metabolism， fat metabolism， and glucose metabolism. However， the specific molecular mechanisms remain poorly understood. This article presents a review of the research progress in the characteristics and pathogenesis of metabolic disorders associated with Alström syndrome， with the objective of deepening the understanding of metabolic disorders associated with this disease and providing references for treatment and prevention.

Key words: Alstr?m syndrome, metabolic disorders, cilia dysfunction, molecular mechanisms