• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Case Reports in Nephrology >Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
【24h】

Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family

机译：以前与法布里病相关的未认出的基因变异：对一个家庭的影响

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure. He was found to have zebra bodies in visceral epithelial cells on biopsy, with electron microscopy showing inclusions within the cytoplasm of multiple podocytes consistent with Fabry disease. An alpha-galactosidase level was found to be 21?nm/hr/mg (normal range 50–150?nm/hr/mg). Genetic studies revealed a missense variant in the GLA gene with alanine replaced by cysteine at position 682 (c.682 A??C, p.N228H) that had not been previously associated with Fabry disease. The same variant was detected in two additional family members. The pathologic findings, clinical features, and low alpha-galactosidase level suggest that the c.682 A??C variant is associated with Fabry disease.
机译：法布里疾病是一种与α-半乳糖苷酶-A基因区域中超过1000个突变相关的X链接溶酶体储存遗传疾病。我们在这里报道了一名69岁的男性，经历了肾脏活检以评估进步肾功能衰竭。他被发现在活组织检查的心脏上皮细胞中患有斑马体，电子显微镜显示出与法布里疾病一致的多个多孔细胞的细胞质内的夹杂物。发现α-半乳糖苷酶水平为21μm/ hr / mg（正常范围50-150〜nm / hr / mg）。遗传学研究揭示了GLA基因中的丙酮在丙氨酸在682（C.682 A-β）的位置替代的丙氨酸（C.682 A·ΔC，P.N228H），所述丙氨酸未与法布里疾病相关联。在两个额外的家庭成员中检测到相同的变体。病理发现，临床特征和低α-半乳糖苷酶水平表明C.682 A？> C变异与法布里疾病有关。

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