Diabetes insipidus.
The advances in our understanding of the pathophysiology of defects in the antidiuretic hormone, the V2 receptor and the water channel, owing to mutations in the prepro-AVP-NPII, AVPR2 and AQP2 genes respectively, is providing insight into inherited diabetes insipidus as well as the more numerous sporadic cases. Further structure-function analyses of these mutated genes will increase our understanding of normal vasopressin-regulated water transport across the kidney epithelium at the molecular level.
Hendy
G N
GN
Department of Medicine, McGill University, Montreal, Canada.
Bichet
D G
DG
D000818:Animals; D003919:Diabetes Insipidus / Q000235:genetics*; D018500:Diabetes Insipidus, Nephrogenic / Q000235:genetics; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D009154:Mutation; D051381:Rats; D017483:Receptors, Vasopressin / Q000235:genetics
D017483:Receptors, Vasopressin