PHENOTYPE AND GENOTYPE IN CONGENITAL NEPHROGENIC DIABETES INSIPIDUS

先天性肾性尿崩症的表型和基因型

• 批准号: 6304185
• 负责人: GARY L. ROBERTSON
• 金额: $ 2.05万
• 依托单位: NORTHWESTERN UNIVERSITY AT CHICAGO
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-12-01 至 2000-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6304185
• 关键词: clinical research; congenital kidney disorder; genotype; human subject; nephrogenic diabetes insipidus; phenotype; vasopressins

Congenital nephrogenic diabetes insipidus (CNDI) is an inborn disorder caused by renal insensitivity to the antidiuretic effects of vasopressin. It is characterized clinically by polyuria, polydipsia, and recurrent dehydration which usually manifest themselves within days or weeks of birth. In some cases, the polyuria and polydipsia can be ameliorated. The goal of this project is to determine the relationships between variations in genotype and clinical phenotype in CNDI.

先天性肾源性尿崩症（CNDI）是由于肾脏对加压素的抗利尿作用不敏感而引起的一种先天性疾病。其临床特征为多尿、烦渴和反复脱水，通常在出生后数天或数周内表现出来。 在某些情况下，可以改善多尿和烦渴。 本项目的目的是确定CNDI中基因型变异与临床表型之间的关系。