GLUT1 deficiency syndrome into adulthood: a follow-up study
GLUT1 deficiency syndrome into adulthood: a follow-up study
复制标题
DOI：
10.1007/s00415-014-7240-z
复制
发表时间：
2014-03-01
影响因子：
6
通讯作者：
Willemsen, M. A.
中科院分区：
文献类型：
--
作者：
Leen, W. G.;Taher, M.;Willemsen, M. A.
GLUT1缺乏综合征（GLUT1DS）是一种可治疗的神经代谢紊乱，其中葡萄糖转运到大脑中受到干扰。除了智力残疾、癫痫和运动障碍的经典表型外，其他表型也越来越多地被认识到。这些包括，例如，特发性全身性癫痫和阵发性运动诱发的运动障碍。由于这种疾病只被认识了二十年，而且大多数是在儿童中诊断出来的，所以对疾病的过程知之甚少。我们的目的是研究从婴儿期到成年期具有经典复杂表型的GLUT1DS患者的病程。我们进行了一项系统性文献综述和一项队列研究，包括18岁及以上的GLUT 1DS患者。文献检索共获得91例成人GLUT 1DS患者，其中33例患者（三分之一）具有复杂表型。该队列研究包括7名具有复杂表型的GLUT1DS患者，他们在我们的诊所从儿童期到成年期进行了前瞻性随访。我们的研究结果表明，癫痫是一个突出的特点，在儿童时期的经典GLUT1DS患者。然而，在青春期，癫痫减少甚至消失，但新的阵发性运动障碍，特别是阵发性运动诱发的运动障碍，如果在儿童时期就已经存在，则会出现或恶化。智力残疾没有进行系统评估，但认知功能似乎是稳定的整个生命。与儿童一样，青少年也可以从生酮饮食或其变体中受益。
GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual disability, epilepsy, and movement disorders, other phenotypes are increasingly recognized. These include, for example, idiopathic generalized epilepsy and paroxysmal exercise-induced dyskinesia. Since the disorder has only been recognized for two decades and is mostly diagnosed in children, little is known about the disease course. Our purpose was to investigate the disease course of GLUT1DS patients with the classic, complex phenotype from infancy into adulthood. We performed a systematic literature review as well as a cohort study, including GLUT1DS patients aged 18 years and older. The literature search yielded a total of 91 adult GLUT1DS patients, of which 33 patients (one-third) had a complex phenotype. The cohort study included seven GLUT1DS patients with a complex phenotype who were prospectively followed up in our clinic from childhood into adulthood. Our results show that epilepsy is a prominent feature during childhood in classic GLUT1DS patients. During adolescence, however, epilepsy diminishes or even disappears, but new paroxysmal movement disorders, especially paroxysmal exercise-induced dyskinesia, either appear or worsen if already present in childhood. Intellectual disability was not systematically assessed, but cognitive functions appeared to be stabile throughout life. Like children, adolescents may benefit from a ketogenic diet or variants thereof.