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Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.
- Source :
-
American journal of physiology. Renal physiology [Am J Physiol Renal Physiol] 2013 Apr 15; Vol. 304 (8), pp. F1037-42. Date of Electronic Publication: 2013 Jan 30. - Publication Year :
- 2013
-
Abstract
- The study of human physiology is paramount to understanding disease and developing rational and targeted treatments. Conversely, the study of human disease can teach us a lot about physiology. Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to our understanding of the mechanisms of urinary concentration and identified the vasopressin receptor AVPR2, as well as the water channel aquaporin-2 (AQP2), as key players in water reabsorption in the collecting duct. Yet, there are also secondary forms of NDI, for instance as a complication of lithium treatment. The focus of this review is secondary NDI associated with inherited human diseases, such as Bartter syndrome or apparent mineralocorticoid excess. Currently, the underlying pathophysiology of this inherited secondary NDI is unclear, but there appears to be true AQP2 deficiency. To better understand the underlying mechanism(s), collaboration between clinical and experimental physiologists is essential to further investigate these observations in appropriate experimental models.
- Subjects :
- Aquaporin 2 deficiency
Bartter Syndrome metabolism
Diabetes Insipidus, Nephrogenic metabolism
Fanconi Syndrome genetics
Fanconi Syndrome metabolism
Fanconi Syndrome physiopathology
Humans
Hypercalciuria genetics
Hypercalciuria metabolism
Hypercalciuria physiopathology
Hypokalemia genetics
Hypokalemia metabolism
Hypokalemia physiopathology
Receptors, Vasopressin deficiency
Aquaporin 2 genetics
Bartter Syndrome genetics
Bartter Syndrome physiopathology
Diabetes Insipidus, Nephrogenic genetics
Diabetes Insipidus, Nephrogenic physiopathology
Receptors, Vasopressin genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1522-1466
- Volume :
- 304
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- American journal of physiology. Renal physiology
- Publication Type :
- Academic Journal
- Accession number :
- 23364801
- Full Text :
- https://doi.org/10.1152/ajprenal.00639.2012