Jakimiec Martyna, Paprocka Justyna, Śmigiel Robert
Department of Paediatrics and Developmental Age Neurology, Upper Silesian Child Health Centre, 40-752 Katowice, Poland.
Department of Paediatric Neurology, Faculty of Medical Science, Medical University of Silesia, 40-055 Katowice, Poland.
Brain Sci. 2020 Feb 17;10(2):107. doi: 10.3390/brainsci10020107.
CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional CDKL5 protein, i.e., serine-threonine kinase (previously referred to as STK9), or its complete absence. The clinical picture is characterized by epileptic seizures (that start within the first three months of life and most often do not respond to pharmacological treatment), epileptic encephalopathy secondary to seizures, and retardation of psychomotor development, which are often observed already in the first months of life. Due to the fact that is located on the X chromosome, the prevalence of CDD among women is four times higher than in men. However, the course is usually more severe among male patients. Recently, many clinical centers have analyzed this condition and provided knowledge on the function of CDKL5 protein, the natural history of the disease, therapeutic options, and their effectiveness and prognosis. The International CDKL5 Disorder Database was established in 2012, which focuses its activity on expanding knowledge related to this condition and disseminating such knowledge to the families of patients.
CDKL5缺乏症（CDD）是一种由无功能的CDKL5蛋白（即丝氨酸 - 苏氨酸激酶，以前称为STK9）存在或完全缺失导致的临床症状复合体。临床表现的特征为癫痫发作（在生命的前三个月内开始，且大多数对药物治疗无反应）、继发于癫痫发作的癫痫性脑病以及精神运动发育迟缓，这些症状在生命的最初几个月通常就已出现。由于CDD基因位于X染色体上，女性中CDD的患病率比男性高四倍。然而，男性患者的病程通常更为严重。最近，许多临床中心对这种疾病进行了分析，并提供了有关CDKL5蛋白功能、疾病自然史、治疗选择及其有效性和预后的知识。国际CDKL5缺乏症数据库于2012年建立，其活动重点是扩展与该疾病相关的知识，并将这些知识传播给患者家属。
