Fujiwara T M, Morgan K, Bichet D G
Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Annu Rev Med. 1995;46:331-43. doi: 10.1146/annurev.med.46.1.331.
The identification, characterization, and mutational analysis of three different genes, namely the prepro-arginine-vasopressin-neurophysin II gene (prepro-AVP-NPII), the arginine-vasopressin receptor 2 gene (AVPR2), and the vasopressin-sensitive water channel gene (aquaporin-2, AQP2), provide the basis for our understanding of three different hereditary forms of diabetes insipidus: autosomal dominant neurogenic diabetes insipidus, X-linked nephrogenic diabetes insipidus, and autosomal recessive nephrogenic diabetes insipidus, respectively. These advances provide diagnostic tools for physicians caring for these patients.
三种不同基因的鉴定、特征描述及突变分析，即前阿片素 - 血管加压素 - 神经垂体素II基因（前阿片素 - AVP - NPII）、血管加压素受体2基因（AVPR2）和血管加压素敏感性水通道基因（水通道蛋白 - 2，AQP2），分别为我们理解三种不同的遗传性尿崩症形式提供了基础：常染色体显性神经源性尿崩症、X连锁肾源性尿崩症和常染色体隐性肾源性尿崩症。这些进展为治疗这些患者的医生提供了诊断工具。
