• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of Clinical Medicine >Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations
【24h】

Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations

机译：HNF1B突变小儿患者基因型和表型分析

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

摘要

HNF1B mutations, one of the most common causes of congenital anomalies of the kidney and urinary tract, manifest as various renal and extrarenal phenotypes. We analyzed the genotype-phenotype correlations in 14 pediatric patients with HNF1B mutations. Genetic studies revealed total gene deletion in six patients (43%). All patients had bilateral renal abnormalities, primarily multiple renal cysts. Twelve patients exhibited progressive renal functional deterioration, and six of them progressed to kidney failure. The annual reduction in estimated glomerular filtration rate was?2.1 mL/min/1.73 m 2 . Diabetes developed in five patients (36%), including one patient with new-onset diabetes after transplantation. Neurological deficits were noted in three patients (21%), one with total gene deletion and two with missense mutations. Pancreatic abnormalities were more frequent in patients with missense mutations than in patients with other types of mutations. Genotype showed no significant correlation with renal outcomes or other extrarenal manifestations. The HNF1B scores at the times of onset and genetic diagnosis were 8 in two patients and one patient, respectively. Diagnosis of HNF1B mutations is clinically difficult because of extreme phenotypic variability and incomplete penetrance. Furthermore, some phenotypes develop with age. Therefore, patient age should be taken into consideration to increase the diagnostic rate, because some phenotypes develop with age.
机译：HNF1B突变是肾脏和泌尿道先天性异常的最常见原因之一，表现为各种肾和外肾上外表型。我们分析了14例HNF1B突变患者的基因型表型相关性。遗传研究显示六名患者的总基因缺失（43％）。所有患者均有双侧肾异常，主要是多种肾囊肿。 12名患者表现出进行的肾功能恶化，其中六个进展到肾衰竭。估计肾小球过滤速率的年度减少是？2.1ml / min / 1.73m 2。糖尿病在五名患者（36％）中开发，包括移植后一名患有新的糖尿病的患者。在三名患者（21％）中注意到神经系统缺陷，一种全基因缺失，两种患有畸形突变。胰腺异常在患有其他类型突变的患者中更频繁频繁。基因型显示与肾果或其他外肠球表现无明显相关性。发病时间和遗传诊断时的HNF1B分别分别为2名患者和一名患者。由于极端的表型变异性和不完全的渗透，HNF1B突变的诊断是临床困难的。此外，一些表型随着年龄的增长而发展。因此，应考虑患者年龄以增加诊断率，因为某些表型随着年龄的增长而发展。

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