• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Case Reports in Genetics >Intrafamilial Variability of Early-Onset Diabetes due to anINSMutation
【24h】

Intrafamilial Variability of Early-Onset Diabetes due to anINSMutation

机译：因INS突变引起的早期糖尿病的家族内变异

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

摘要

Aim. The objective of this study was to describe the clinical characteristics of two siblings and their father carrying a C95Y mutation in the insulin (INS) gene.Methods/Results. A Danish patient, his sister, and his father were identified to carry the C95Y mutation in the preproinsulin molecule causing permanent neonatal diabetes. All three were diagnosed before 29 weeks of age, were born at term with near-normal birth weight, and were negative for GAD, ICA, IA-2, and IAA autoantibodies. The daily insulin requirement the first six months after diagnosis was <0.5  U kg−1day−1for both children. The father, insulin treated for over 40 years, has bilateral preproliferative retinopathy.Conclusions. These three cases further confirm the essential features of diabetes caused byINSmutations with proteotoxic effect. We conclude that patients with similar features must be investigated for mutations ofINSgene.
机译：目标。这项研究的目的是描述两个兄弟姐妹及其父亲在胰岛素（INS）基因中携带C95Y突变的临床特征。方法/结果。丹麦患者，他的妹妹和他的父亲被确定在胰岛素原前分子中携带C95Y突变，导致永久性新生儿糖尿病。这三人均在29周前被诊断出，足月出生时体重接近正常，并且GAD，ICA，IA-2和IAA自身抗体均为阴性。两个孩子诊断后头六个月的每日胰岛素需求量均<0.5 0.5U kg-1天-1。这位父亲接受了40多年的胰岛素治疗，患有双侧增生性视网膜病变。这三例病例进一步证实了由INS突变引起的糖尿病的基本特征，并具有蛋白毒性作用。我们得出结论，必须研究具有相似特征的患者的INSgene突变。

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