NOVEL TYPES OF FAMILIAL DIABETES INSIPIDUS

本研究的目的是确定表型和遗传基础， 以前未描述的家族性尿崩症（FDI）。所有 新类型的外国直接投资似乎是 隔离将被接纳到CRC进行一系列测试，以确定 存在、不存在、原因、自然史、临床伴随物和 外商直接投资的介入方式。这些评估将包括一个全面的 病史和体格检查以及标准临床测量 基础液体摄入量和尿量，垂体后叶和前叶 功能、体位血流动力学、交感神经和肾素活性 系统，垂体和下丘脑的MRI以及 二尖瓣和主动脉瓣。另外，导致 将通过测试表型与其他表型的联系来绘制FDI的地图。 已知遗传基因座和/或多态性VTRS（可变串联）的疾病 重复序列）标记物，已知其在整个 人类基因组这些信息将有助于提高 表型和澄清这种和其他类型的FDI的发病机制。 它也可能被证明有助于了解其他遗传基础。 遗传性中枢神经功能障碍。

The objective of this study is to define the phenotype and genetic basis of previously undescribed types of familial diabetes insipidus (FDI). All consenting members of kindreds in which novel types of FDI appear to be segregating will be admitted to the CRC for a series of tests to determine the presence, absence, cause, natural history, clinical concomitants and mode of interitance of the FDI. These evaluation will include a thorough history and physical examination as well as standard clinical measurements of basal fluid intake and urine output, posterior and anterior pituitary function, postural hemodynamics, the activity of the sympathetic and renin systems, MRI of the pituitary and hypothalamus and echocardiograms of the mitral and aortic valves. In addition, the genetic mutation responsible for the FDI will be mapped by testing for linkage of the phenotype to other diseases of known genetic locus and/or polymorphic VTRS (variable tandem repeat sequence) markers known to be located at close intervals throughout the human genome. This information will serve to improve the accuracy of phenotyping and clarify the pathogenesis of this and other types of FDI. It may also prove useful in understanding the genetic basis of other inherited disabilities of central nervous function.