Thibonnier M
Department of Medicine, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106-4982.
Rev Prat. 1994 May 1;44(9):1169-72.
Congenital nephrogenic diabetes insipidus is a rare hereditary disease characterized by a renal insensitivity to circulating vasopressin. Genetic linkage studies have demonstrated that the gene responsible for congenital nephrogenic diabetes insipidus is located in region 28 of the X chromosome long arm. That the gene coding for the vasopressin V2 receptor is also located in the q28-qter of chromosome X suggests that the signalisation defect in congenital nephrogenic diabetes insipidus is at the level of the receptor itself. Indeed, congenital nephrogenic diabetes insipidus is a genetically heterogeneous disease since several point mutations in the vasopressin V2 receptor gene nucleotide sequence have been observed in different families of afflicted patients. Moreover, the observation that one of these mutations leads to a lack of cyclic AMP production in response to vasopressin confirms that mutations of the vasopressin V2 receptor sequence are the molecular defects responsible for congenital nephrogenic diabetes insipidus.
先天性肾性尿崩症是一种罕见的遗传性疾病，其特征为肾脏对循环中的血管加压素不敏感。基因连锁研究表明，导致先天性肾性尿崩症的基因位于X染色体长臂的28区。血管加压素V2受体的编码基因也位于X染色体的q28-qter，这表明先天性肾性尿崩症的信号转导缺陷发生在受体本身水平。事实上，先天性肾性尿崩症是一种基因异质性疾病，因为在患病患者的不同家族中已观察到血管加压素V2受体基因核苷酸序列中的几个点突变。此外，其中一个突变导致对血管加压素无环磷酸腺苷产生的观察结果证实，血管加压素V2受体序列的突变是导致先天性肾性尿崩症的分子缺陷。
