CDKL5 deficiency disorder: clinical features, diagnosis, and management.
CDKL5 deficiency disorder: clinical features, diagnosis, and management.
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DOI：
10.1016/s1474-4422(22)00035-7
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发表时间：
2022-06
期刊：
影响因子：
48
通讯作者：
Demarest, Scott
中科院分区：
文献类型：
--
作者：
Leonard, Helen;Downs, Jenny;Benke, Tim A.;Swanson, Lindsay;Olson, Heather;Demarest, Scott
CDKL 5缺乏症（CDD）于2004年首次被确定为人类疾病的原因。虽然最初被认为是Rett综合征的一种变体，但CDD现在被认为是一种独立的疾病，并被归类为发育性癫痫性脑病。它的特征是早期发作（通常在出生后的前2个月内）癫痫发作，通常对多种药物治疗无效。CDD患者的发育严重受损，只有四分之一的女孩和较小比例的男孩实现独立行走;然而，存在临床变异性，这可能是遗传决定的。与其他发育性癫痫性脑病一样，胃肠道、睡眠和肌肉骨骼问题在CDD中很常见，但脑视觉障碍的患病率在CDD中似乎更高。诊断患有CDD的婴儿的临床医生需要熟悉这种疾病的复杂性，以便为患者家属提供适当的咨询。尽管生酮饮食和迷走神经刺激有一些好处，但很少有证据表明传统的抗癫痫药物或其组合对CDD有帮助，但进一步的治疗试验最终正在进行中。
CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004. Although initially considered a variant of Rett syndrome, CDD is now recognised as an independent disorder and classified as a developmental epileptic encephalopathy. It is characterised by early-onset (generally within the first 2 months of life) seizures that are usually refractory to polypharmacy. Development is severely impaired in patients with CDD, with only a quarter of girls and a smaller proportion of boys achieving independent walking; however, there is clinical variability, which is probably genetically determined. Gastrointestinal, sleep, and musculoskeletal problems are common in CDD, as in other developmental epileptic encephalopathies, but the prevalence of cerebral visual impairment appears higher in CDD. Clinicians diagnosing infants with CDD need to be familiar with the complexities of this disorder to provide appropriate counselling to the patients’ families. Despite some benefit from ketogenic diets and vagal nerve stimulation, there has been little evidence that conventional antiseizure medications or their combinations are helpful in CDD, but further treatment trials are finally underway.