A variant of nephrogenic diabetes insipidus: V2 receptor abnormality restricted to the kidney |
| |
Authors: | N Knoers L A H Monnens |
| |
Institution: | (1) Department of Human Genetics, University Hospital Nijmegen, P.O. Box 9101, Nijmegen, The Netherlands;(2) Department of Paediatrics, University Hospital Nijmegen, P.O. Box 9101, Nijmegen, The Netherlands |
| |
Abstract: | In congenital nephrogenic diabetes insipidus (NDI) blunted responses of plasma factor VIII, von Willebrand factor, and plasminogen activator to the synthetic V2 analogue 1-desamino-8-d-arginine vasopressin (DDAVP) have been reported. In addition, vasodilatory responses to DDAVP appear to be absent in NDI. We describe a boy, who presented shortly after birth with the typical features of NDI, but who showed normal coagulation, fibrinolytic and vasodilatory responses to DDAVP. We conclude that in this patient the defect is confined to the kidney, while in other NDI patients there may be a general V2 receptor abnormality. These findings point to heterogeneity in NDI. |
| |
Keywords: | Nephrogenic diabetes insipidus Heterogeneity |
本文献已被 SpringerLink 等数据库收录! |
|