德朗热综合征的分子机制及诊治研究进展

Research Progress in Molecular Mechanism,Diagnosis and Treatment of Cornelia De Lange Syndrome

德朗热综合征(CdLS)是一种罕见的累及多器官系统、具有遗传异质性的先天发育障碍疾病,其主要特征包括颅面部畸形、宫内及出生后生长发育迟缓、认知障碍、行为异常、肢体畸形及其他主要内脏器官受累。目前认为,CdLS主要与黏连蛋白复合体的分子遗传学异常相关。其患者主要依据临床特征及基因检测进行诊断。目前,对CdLS患者主要进行对症治疗,及时对CdLS患者进行干预,有利于改善其预后。未来,应对CdLS相关基因进行深入研究,以正确认识其潜在发病机制并进一步开创有效干预方法。

Cornelia de Lange syndrome(CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity.Its main characteristics include craniofacial deformities,intrauterine and postnatal growth retardation,cognitive impairment,behavioral abnormalities,limb deformities and other major visceral organs involvement.At present,it is believed that CdLS is mainly associated with molecular genetic abnormalities of the cohesin complex.The diagnosis is mainly based on the clinical features and gene detection.At present,symptomatic treatment is the main treatment for patients with CdLS,and timely intervention for patients with CdLS is conducive to improving their prognosis.In the future,CdLS-related genes should be further studied in order to correctly understand the potential pathogenesis and further develop the effective intervention methods.