中文摘要：

Alstr？m综合征是一种隐性的单基因细胞纤毛遗传性疾病,由ALMS1基因突变引起,其典型特征为视锥-杆体细胞营养不良、听力损失、儿童腹型肥胖、胰岛素抵抗和高胰岛素血症、2型糖尿病、高甘油三酯血症、成年期身材矮小、心肌病和进行性肺、肝、肾功能障碍.ALMS1基因缺陷包括插入、删除和无义突变,导致蛋白质截短.ALMS1蛋白位于所有受疾病影响的纤毛细胞中心体、基底部和细胞溶质组织.具有维护纤毛功能和结构的作用,另外在细胞内运输、纤毛信号通路调节、细胞分化等方面也发挥作用.但ALMS1确切的致病机制不明.Alstr？m综合征不同年龄阶段临床特征不同,初步诊断依赖于临床症状,但确诊依赖于ALMS1基因检测.目前,Alstr？m综合征尚无根治方法,主要治疗措施局限于临床症状的对症处理和生活质量的改善,因此必须继续研究疾病的分子致病机制,进而明确基因治疗靶点,开辟个性化治疗道路.

英文摘要：

Alstr？m syndrome, a recessive monogenic ciliopathy caused by mutations in ALMS1gene, is typically characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance, hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, progressive pulmonary, hepatic and renal dysfunction.ALMS1 gene defects include insertions, deletions and nonsense mutations leading to protein truncations.ALMS1 protein is found in centrosomes, basal bodies and cytosol of all tissues affected by the disease.In addition to its role in ciliary function and structure maintenance, this protein has been implicated in intracellular trafficking, regulation of cilia signaling pathways, cellular differentiation and among others.The precise function of ALMS1 protein remains elusive.The preliminary diagnosis is made on the basis of different clinical characteristics of different age stages.Genetic testing would confirm the diagnosis.So far, there is no specific therapy for Alstr？m syndrome, the main treatment is limited to improve clinical symptoms and quality of life for patients.Researching molecular pathogenic mechanism and gene therapy targets of the disease, could open the way to personalized therapies for individuals with Alstr？m syndrome in the future.