Tsukaguchi H, Matsubara H, Inada M
2nd Department of Internal Medicine, Kansai Medical University.
Nihon Rinsho. 1998 Jul;56(7):1848-55.
Congenital nephrogenic diabetes insipidus is a rare inherited disorder, which is characterized by the inability of the kidney to concentrate urine due to unresponsiveness to antiduretic hormone arginine vasopressin. Defects must be present somewhere in a vasopressin signal transduction pathway in kidney collecting duct. Recent genetic analysis demonstrated that mutations in vasopressin type 2 receptor and water channel aquaporin 2 are responsible for x-linked and autosomal recessive form, respectively. Expression studies of mutant proteins showed that most of the mutations cause severe functional defects, which are compatible with clinical phenotypes. These advances help understanding of molecular mechanism underlying this disease and therefore improve diagnostic and therapeutic approaches.
先天性肾性尿崩症是一种罕见的遗传性疾病，其特征是由于肾脏对抗利尿激素精氨酸加压素无反应而无法浓缩尿液。在肾集合管的加压素信号转导途径中的某个位置必定存在缺陷。最近的基因分析表明，2型加压素受体和水通道蛋白2的突变分别导致X连锁和常染色体隐性形式的疾病。突变蛋白的表达研究表明，大多数突变会导致严重的功能缺陷，这与临床表型相符。这些进展有助于理解该疾病的分子机制，从而改进诊断和治疗方法。
