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: 6275281
• 负责人: GARY L. ROBERTSON
• 金额: $ 2.26万
• 依托单位: NORTHWESTERN UNIVERSITY AT CHICAGO
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-12-01 至 1998-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6275281
• 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 character-ized 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.

先天性肾性尿崩症（CNDI）是一种先天性疾病 由肾脏对加压素的抗利尿作用不敏感引起。 其临床特点是多尿、烦渴、反复发作 脱水通常在几天或几周内表现出来 出生。在某些情况下，多尿和多饮可以得到改善。这 该项目的目标是确定变化之间的关系 CNDI 的基因型和临床表型。