背景:参与糖基磷脂酰肌醇和糖基磷脂酰肌醇锚定蛋白合成的基因的突变导致称为糖基磷脂酰肌醇锚定蛋白生物合成缺陷的罕见综合征。这些疾病中它们的结构和功能的改变通常会损害细胞的基本过程,导致严重的临床形象。本研究旨在对英语文献中发表的GPIBD病例报告进行系统综述。方法:浏览开放存取数据库(PubMed,PubMed中央。和Medline)进行了,然后对收集到的有关神经症状学的信息进行统计分析。纳入标准是:对人类的研究,发病年龄(<18岁),以及关于遗传背景和症状学的充分数据的GPIBD病例的报告。排除标准为:出版物类型(手稿,个人沟通,综述文章);就其他疾病而言,GPI生物合成基因突变病例的报告;集中于非神经系统症状的GPIBD病例的报告;或仅集中于GPI生物合成的遗传问题的文章。使用JoannaBrigs研究所关键评估清单评估偏倚风险。使用STATISTICA13.3.721.1(StatSoftPolskaSp。z.o.o.)。使用的测试是卡方,Fisher精确检验(用于表型差异),和Mann-WhitneyU检验(用于发育迟缓发作的差异)。结果:浏览共返回973篇文章,在排除重复并评估纳入和排除标准后,导致最终纳入77篇文章(337例GPIBD病例)的分析。主要结果是神经系统症状的患病率,癫痫发作的发作和符号学及其对治疗的反应,和发育迟缓的发作。基于该数据,合成GPIBD病例组和一般GPIBD病例群体之间的表型差异。讨论:对GPIBD患者临床影像中的神经成分进行了综合分析。它突出了这些疾病的主要特征,这在临床实践中可能是有用的,以便在对表现为早发性癫痫发作和发育迟缓的儿童进行鉴别诊断时考虑。这次审查的局限性在于一些报告中的具体数据很少,关于GPIBD的两个主要特征的符号学和发作。
Background: Mutations of genes involved in the synthesis of glycosylphosphatidylinositol and glycosylphosphatidylinositol-anchored proteins lead to rare syndromes called glycosylphosphatidylinositol-anchored proteins biosynthesis defects. Alterations of their structure and function in these disorders impair often fundamental processes in cells, resulting in severe clinical image. This study aimed to provide a systematic
review of GPIBD cases reports published in English-language literature. Methods: The browsing of open-access databases (PubMed, PubMed Central. and Medline) was conducted, followed by statistical analysis of gathered information concerning neurological symptomatology. The inclusion criteria were: studies on humans, age at onset (<18 y.o.), and report of GPIBD cases with adequate data on the genetic background and symptomatology. Exclusion criteria were: publication type (manuscripts, personal communication,
review articles); reports of cases of GPI biosynthesis genes mutations in terms of other disorders; reports of GPIBD cases concentrating on non-neurological symptoms; or articles concentrating solely on the genetic issues of GPI biosynthesis. Risk of bias was assessed using Joanna Brigs Institute Critical Appraisal Checklists. Data synthesis was conducted using STATISTICA 13.3.721.1 (StatSoft Polska Sp. z.o.o.). Used tests were chi-square, Fisher\'s exact test (for differences in phenotype), and Mann-Whitney U test (for differences in onset of developmental delay). Results: Browsing returned a total of 973 articles which, after ruling out the repetitions and assessing the inclusion and exclusion criteria, led to final inclusion of 77 articles (337 GPIBD cases) in the analysis. The main outcomes were prevalence of neurological symptoms, onset and semiology of seizures and their response to treatment, and onset of developmental delay. Based on this data a synthesis of phenotypical differences between the groups of GPIBD cases and the general GPIBD cases population was made. Discussion: A synthetical analysis of neurological components in clinical image of GPIBD patients was presented. It highlights the main features of these disorders, which might be useful in clinical practice for consideration in differential diagnosis with children presenting with early-onset seizures and developmental delay. The limitation of this
review is the scarcity of the specific data in some reports, concerning the semiology and onset of two main features of GPIBD.