NOVEL TYPES OF FAMILIAL DIABETES INSIPIDUS

本研究的目的是确定以前未描述的家族性尿崩症（FDI）类型的表型和遗传基础。新类型的外国直接投资似乎正在分离的所有同意的种类成员将被接纳到儿童权利委员会进行一系列测试，以确定外国直接投资的存在、不存在、原因、自然史、临床伴随病和遗传方式。这些评估将包括全面的病史和体格检查，以及基础液体摄入量和尿量的标准临床测量，垂体后叶和前叶功能，体位血流动力学，交感神经和肾素系统的活动，垂体和下丘脑的MRI以及二尖瓣和主动脉瓣的超声心动图。此外，将通过检测表型与已知遗传位点和/或多态VTRS（可变串联重复序列）标记的其他疾病的联系来绘制导致FDI的基因突变，这些标记已知在整个人类基因组中间隔很近。这一信息将有助于提高表型的准确性，并阐明这种和其他类型FDI的发病机制。它也可能有助于理解其他遗传性中枢神经功能残疾的遗传基础。

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.