Bichet D G
Department of Medicine, Université de Montréal, Hôpital du Sacré-Coeur de Montréal, Québec, Canada.
Kidney Int. 1996 Jun;49(6):1706-11. doi: 10.1038/ki.1996.252.
The molecular cloning and characterization of receptors for the nonapeptide hormone family vasopressin-oxytocin was rapidly followed by the identification of mutations in the V2 receptor gene segregating with the clinical phenotype in more than a hundred families with X-linked nephrogenic diabetes insipidus. Together with the recent cloning of the vasopressin-regulated water channel in the apical membrane of the collecting duct tubule and of the identification of rare autosomal recessive nephrogenic diabetes insipidus patients with mutations in the AQP2 gene, these developments enable carrier detection and early diagnosis of infants with congenital nephrogenic diabetes insipidus.
九肽激素家族血管加压素 - 催产素受体的分子克隆与特性鉴定之后，很快就在一百多个患有X连锁肾性尿崩症的家族中，发现了V2受体基因突变与临床表型的分离现象。再加上最近在集合管小管顶膜中克隆出血管加压素调节的水通道，以及鉴定出患有常染色体隐性肾性尿崩症且AQP2基因突变的罕见患者，这些进展使得对先天性肾性尿崩症婴儿的携带者检测和早期诊断成为可能。
