The study of human physiology is paramount to understand disease and develop 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 AQP2 as key players for 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 of clinical and experimental physiologists is essential to further investigate these observations in appropriate experimental models.
- nephrogenic diabetes insipidus
- Bartter syndrome
- inherited kidney disease
- Copyright © 2012, American Journal of Physiology - Renal Physiology