...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Journal of Endocrinological Investigation: Official Journal of the Italian Society of Endocrinology >Adult onset hypoparathyroidism in a patient with psychiatric illness: a 71 years delayed diagnosis of DiGeorge syndrome.
【24h】

Adult onset hypoparathyroidism in a patient with psychiatric illness: a 71 years delayed diagnosis of DiGeorge syndrome.

机译：患有精神疾病的患者的成人甲状旁腺功能减退：DiGeorge综合征的诊断延迟了71年。

获取原文
获取原文并翻译 | 示例
   

获取外文期刊封面封底 >>

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

摘要

Hypoparathyroidism is a heterogeneous group of disorders with different etiology characterized by hypocal-cemia and hyperphosphatemia. Several distinct genetic forms of isolated and syndromic hypoparathyroidism have been described and, in a number of cases, overt hypoparathyroidism is not present at birth, developing later during life (1). Among these, DiGeorge syndrome (DGS, OMIM 188400), the most common microdeletion syndrome in humans with an incidence of 1 per 4000 live births, is a relatively frequent cause of hypoparathyroidism. Abnormal parathyroid function, ranging from severe hypocalcemia to latent hypoparathyroidism, occurs in up to 69% of the 22q11.2 deleted patients (2, 3). Though hypoparathyroidism usually occurs in neonatal life, it can be diagnosed later, as in 70% of cases it could resolve in the childhood, remaining latent (3). Moreover, DGS provides a challenge for the clinical diagnosis as symptoms and signs are highly variable. Here we reported a man with late-onset hypoparathyroidism, who was diagnosed as affected with DGS at the age of 71 yr. The genetic analysis was performed on peripheral blood DNA using a real-time quantitative PCR (qPCR). qPCR applications are becoming a reference method, alternative to fluorescence in situ hybridization, for constitutional allelic copy number determination with several examples in the detection of 22q11.2 microdeletions (4, 5).
机译：甲状旁腺功能低下是一组病因不同的异质性疾病，其特征为低钙血症和高磷酸盐血症。已经描述了几种分离的和综合征性甲状旁腺功能减退症的不同遗传形式，并且在许多情况下，出生时不存在明显的甲状旁腺功能减退，而在生命的后期发展（1）。其中，DiGeorge综合征（DGS，OMIM 188400）是人类中最常见的微缺失综合征，每4000例活产中有1例发生，是甲状旁腺功能低下的相对常见原因。从严重的低血钙症到潜在的甲状旁腺功能低下的甲状旁腺功能异常，发生在22q11.2被删除的患者中，高达69％（2，3）。尽管甲状旁腺功能低下通常发生在新生儿中，但可以在以后诊断，因为在70％的病例中，甲状旁腺功能可以在儿童期消退，并保持潜伏状态（3）。此外，由于症状和体征变化很大，DGS为临床诊断提出了挑战。在这里，我们报道了一名患有迟发性甲状旁腺功能低下的男性，该男性在71岁时被诊断出患有DGS。使用实时定量PCR（qPCR）对外周血DNA进行遗传分析。 qPCR的应用正在成为荧光原位杂交的替代方法，用于确定等位基因拷贝数，其中包括检测22q11.2微缺失的几个例子（4、5）。

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