NDT Advance Access originally published online on March 5, 2004
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Nephrol Dial Transplant (2004) 19: 1351-1353
Nephrol Dial Transplant Vol. 19 No. 6 © ERA-EDTA 2004; all rights reserved
Editorial Comment
Nephrogenic diabetes insipidus: update of genetic and clinical aspects
Department of Nephrology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan
Correspondence and offprint requests to: Sei Sasaki, MD, Department of Nephrology, Graduate School, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-Ku, Tokyo 113-8519, Japan. Email: ssasaki.kid@tmd.ac.jp
Keywords: aquaporin 2; AQP2; kidney hereditary disease; vasopressin
| The first 150 words of the full text of this article appear below. |
 |
Introduction |
|---|
Ten years have passed since the cloning and molecular identification of the vasopressin V2 receptor (V2R) and aquaporin-2 water channel (AQP2), a pair of molecules whose genetic mutations have been established to cause hereditary nephrogenic diabetes insipidus (NDI), a human disease characterized by an inability to concentrate urine. Gene identification and mutation searches in NDI families have led to the identification of numerous patients, which in turn has provided a more detailed view of the clinical characteristics of this disease entity. Human genetic analyses of these types have also provided insight into how AQP2 protein is regulated inside the cell and how mutant AQP2s come to resist proper regulation. This knowledge of cellular biology will form the basis for the development of new treatments. The present Comment focuses on recent advances in our understanding of the genetic and clinical aspects of NDI.
|
Classification |
|---|
NDI patients typically cannot concentrate urine above serum
|
Clinical symptoms and diagnosis |
|---|
|
Therapy—usual therapy and future challenge |
|---|
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  G. Decaux, F. Vandergheynst, Y. Bouko, J. Parma, G. Vassart, and C. Vilain Nephrogenic Syndrome of Inappropriate Antidiuresis in Adults: High Phenotypic Variability in Men and Women from a Large Pedigree J. Am. Soc. Nephrol., February 1, 2007; 18(2): 606 - 612. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M L Marcovecchio An infant with chronic hypernatremia Eur. J. Endocrinol., November 1, 2006; 155(suppl_1): S141 - S144. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. M. Russo, M. McKee, and D. Brown Methyl-beta-cyclodextrin induces vasopressin-independent apical accumulation of aquaporin-2 in the isolated, perfused rat kidney Am J Physiol Renal Physiol, July 1, 2006; 291(1): F246 - F253. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Morishita, M. Tsutsui, H. Shimokawa, K. Sabanai, H. Tasaki, O. Suda, S. Nakata, A. Tanimoto, K.-Y. Wang, Y. Ueta, et al. Nephrogenic diabetes insipidus in mice lacking all nitric oxide synthase isoforms PNAS, July 26, 2005; 102(30): 10616 - 10621. [Abstract] [Full Text] [PDF]
|
|