CDKL5综合征及其治疗进展

CDKL5综合征（CDD）是一种多发于女性的早发性癫痫综合症，其临床表现主要包括严重的癫痫以及认知、运动、视觉和自主神经功能障碍等。已有的研究表明，CDD的致病基因是位于X染色体上的细胞周期依赖性蛋白激酶样蛋白5（cyclin-dependent kinase-like 5，CDKL5）基因。在过去临床诊疗中，CDD与雷特综合征和X-连锁婴儿痉挛征的表型存在重叠，而且目前在临床上还没有有效的治疗方法。近年来，CDD越来越受到人们的重视，对应的治疗方法也不断更新，主要包括蛋白质和基因疗法、生酮饮食及脑深部电刺激。因此，本文将针对CDD及其病理机制和临床治疗研究进展进行综述。

CDKL5 deficiency disorder(CDD) is an early onset epilepsy syndrome that occurs mostly in girls, which is characterized by severe epilepsy and cognitive, motor, visual and autonomic nervous dysfunction. Previous studies already demonstrated that CDD is caused by the deletion of dependent kinase like protein 5(CDKL5) gene located on the X chromosome. During clinic, CDD always overlaps with the phenotypes of Rett syndrome and X-linked infantile spasm syndrome over the few past decades. And, there is no effective treatment in clinical practice at present. In recent years, people pay more and more attention to CDKL5 syndrome, and the therapies are also constantly updated, mainly including protein and gene therapy, ketogenic diet, deep brain stimulation. Therefore, this article will review the research progress of CDKL5 syndrome, its pathological mechanism and clinical treatment.