...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of neurology >Extended pheeotype description and new molecular findings In late onset glycogen storage disease type II: a northern Italy population study and review of the literature
【24h】

Extended pheeotype description and new molecular findings In late onset glycogen storage disease type II: a northern Italy population study and review of the literature

机译：延长的pheeotype描述和新的发病糖原储存疾病中的新分子结果II型：意大利北部人口研究和文献审查

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Glycogen storage disease type II (GSDII) is a lysosomal storage disorder caused by acid alpha-1,4-glu-cosidase deficiency and associated with recessive mutations in its coding gene GAA. Few studies have provided so far a detailed phenotypical characterization in late onset GSDII (LO-GSDII) patients. Genotype-phenotype correlation has been previously attempted with controversial results. We aim to provide an in-depth description of a cohort in - 36) of LO-GSDII patients coming from the north of Italy and compare our population's findings to the literature. We performed a clinical record-based retrospective and prospective study of our patients. LO-GSDII in our cohort covers a large variability of phenotype including subtle clinical presentation and did not differ significantly from previous data. In all patients, molecular analysis disclosed GAA mutations, five of them being novel. To assess potential genotype-phenotype correlations we divided IVSl-32-13T>G heterozygous patients into two groups following the severity of the mutations on the second allele. Our patients harbouring "severe" mutations in = 21) presented a strong tendency to have more severe phenotypes and more disability, more severe phenotypes and more disability, higher prevalence of assisted ventilation and a shorter time of evolution to show it. The determination of prognostic factors is mandatory in order to refine the accuracy of prognostic information, to develop follow-up strategy and, more importantly, to improve the decision algorithm for enzyme replacement therapy administration. The demonstration of genotype-phenotype correlations could help to reach this objective. Clinical assessment homogeneity is required to overcome limitations due to the lack of power of most studies.
机译：糖原储存疾病II型（GSDII）是由酸α-1,4-胶合酶缺乏引起的溶酶体储存障碍，并且在其编码基因GAA中与隐性突变相关联。到目前为止，迄今为止还提供了很少的研究表核在后期发病（LO-GSDII）患者的详细表型表征。基因型 - 表型相关性先前已经尝试过有争议的结果。我们的目标是提供来自意大利北部的Lo-GSDII患者的队列队列的深入描述，并将我们的人口对文学的调查结果进行比较。我们进行了基于临床记录的回顾性和对患者的前瞻性研究。我们的队列中的LO-GSDII涵盖了具有细微临床介绍的表型的大量变异性，并且与之前的数据没有显着差异。在所有患者中，分子分析公开了Gaa突变，其中五种是新颖的。为了评估潜在的基因型 - 表型相关性，我们将IVSL-32-13T> G杂合患者分为两组，在第二等位基因上的突变的严重程度之后。我们患有“严重”突变的患者= 21）呈现出更严重的表型和更严重的障碍，更严重的表型和更具残疾，辅助通风的患病率和更短的进化时间来表现出来的强烈倾向。预后因素的测定是强制性的，以便改进预后信息的准确性，以发展后续策略，更重要的是，改善酶替代治疗给药的决策算法。基因型 - 表型相关性的证明可以有助于达到这种目标。由于缺乏大多数研究的力量，需要临床评估均匀性克服局限性。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号