课题基金 / 基金详情

PHENOTYPE AND GENOTYPE IN CONGENITAL NEPHROGENIC DIABETES INSIPIDUS

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
项目类别：
财政年份：
1999
资助国家：
美国
项目状态：
已结题
起止时间：
1999-12-01 至 2000-11-30
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

项目摘要

项目成果

GARY L. ROBERTSON的其他基金

相关文献

中文摘要
翻译
先天性肾源性尿崩症(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。它的临床特征是多尿、多饮和反复脱水，通常在出生后几天或几周内表现出来。在某些情况下，多尿和多饮可以得到改善。本项目的目标是确定CNDI的基因变异与临床表型之间的关系。
英文摘要
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.
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会议论文
Effect of the Oral Vasopressin Receptor Antagonist CI-1025
PATHOGENESIS AND PATHOPHYSIOLOGY OF FAMILIAL NEUROHYPOPHYSEAL DIABETES
EFFECTS OF VPA 985 AND PLACEBO IN TREATMENT OF HYPONATREMIA
PHENOTYPE AND GENOTYPE IN CONGENITAL NEPHROGENIC DIABETES INSIPIDUS